Canonical Allele Identifier: CA846959090

Gene:

Linked Data

• dbSNP Id: rs1447908067
• gnomAD v3: 8-125478506-CA-C
• gnomAD v4: 8-125478506-CA-C
• MyVariant Identifiers: chr8:g.126490749del (hg19) ; chr8:g.125478507del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125478510del , CM000670.2:g.125478510del	GRCh38
NC_000008.10:g.126490752del , CM000670.1:g.126490752del	GRCh37
NC_000008.9:g.126559934del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+5196del