Canonical Allele Identifier: CA692339959

Gene:

Linked Data

• dbSNP Id: rs1412628061
• gnomAD v3: 12-80069347-TAAAC-T
• gnomAD v4: 12-80069347-TAAAC-T
• MyVariant Identifiers: chr12:g.80463128_80463131del (hg19) ; chr12:g.80069348_80069351del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80069355_80069358del , CM000674.2:g.80069355_80069358del	GRCh38
NC_000012.11:g.80463135_80463138del , CM000674.1:g.80463135_80463138del	GRCh37
NC_000012.10:g.78987266_78987269del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_945140.1:n.456+8173_456+8176del
XR_945141.1:n.1758+8173_1758+8176del