Canonical Allele Identifier: CA1129423005

Gene:

Linked Data

• dbSNP Id: rs1829779244
• gnomAD v3: 9-129576886-GTGTGGGGTGGGGGCTGGC-G
• gnomAD v4: 9-129576886-GTGTGGGGTGGGGGCTGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129576887_129576904del , CM000671.2:g.129576887_129576904del	GRCh38
NC_000009.11:g.132339166_132339183del , CM000671.1:g.132339166_132339183del	GRCh37
NC_000009.10:g.131378987_131379004del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_930390.1:n.182+1289_182+1306del