Splice-Adjacent HGVS Variant Examples

This section guides users through real-world examples of HGVS splice-adjacent variants, illustrating how variants expressed in HGVS c. notation are modeled and represented in VRS using RelativeAllele.

The examples are organized by splice junction type, rather than by transcript strand or offset syntax:

• Splice acceptor (intron → exon boundary)

• Splice donor (exon → intron boundary)

Each example demonstrates how strand orientation and HGVS offset direction are handled.

Examples

• Splice acceptor — upstream intronic variant
• Splice acceptor — downstream intronic variant
• Splice donor — upstream intronic variant
• Splice donor — downstream intronic variant