Canonical Allele Identifier: CA847118731

Gene:

Linked Data

• dbSNP Id: rs1239054518
• gnomAD v3: 8-127012498-AT-A
• gnomAD v4: 8-127012498-AT-A
• MyVariant Identifiers: chr8:g.128024744del (hg19) ; chr8:g.127012499del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127012499del , CM000670.2:g.127012499del	GRCh38
NC_000008.10:g.128024744del , CM000670.1:g.128024744del	GRCh37
NC_000008.9:g.128093926del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746076.2:n.1364+5881del