Canonical Allele Identifier: CA240569184

Gene:

Linked Data

• dbSNP Id: rs753476754
• gnomAD v3: 12-80069366-AC-A
• gnomAD v4: 12-80069366-AC-A
• MyVariant Identifiers: chr12:g.80463147del (hg19) ; chr12:g.80069367del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80069367del , CM000674.2:g.80069367del	GRCh38
NC_000012.11:g.80463147del , CM000674.1:g.80463147del	GRCh37
NC_000012.10:g.78987278del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_945140.1:n.456+8185del
XR_945141.1:n.1758+8185del