Canonical Allele Identifier: CA564191875

Gene:

Linked Data

• dbSNP Id: rs1189711490
• gnomAD v2: 5-162083639-A-AT
• gnomAD v3: 5-162656633-A-AT
• gnomAD v4: 5-162656633-A-AT
• MyVariant Identifiers: chr5:g.162083639_162083640insT (hg19) ; chr5:g.162656633_162656634insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162656634dup , CM000667.2:g.162656634dup	GRCh38
NC_000005.9:g.162083640dup , CM000667.1:g.162083640dup	GRCh37
NC_000005.8:g.162016218dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001742958.1:n.418+3468dup