Canonical Allele Identifier: CA687013168

Gene:

Linked Data

• dbSNP Id: rs1312442875
• gnomAD v3: 12-28045140-GT-G
• gnomAD v4: 12-28045140-GT-G
• MyVariant Identifiers: chr12:g.28198074del (hg19) ; chr12:g.28045141del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.28045142del , CM000674.2:g.28045142del	GRCh38
NC_000012.11:g.28198075del , CM000674.1:g.28198075del	GRCh37
NC_000012.10:g.28089342del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_931460.1:n.154-6183del