Canonical Allele Identifier: CA531234607

Gene:

Linked Data

• dbSNP Id: rs1405756087
• gnomAD v2: 2-16639519-TCAAAAAG-T
• gnomAD v3: 2-16458251-TCAAAAAG-T
• gnomAD v4: 2-16458251-TCAAAAAG-T
• MyVariant Identifiers: chr2:g.16639520_16639526del (hg19) ; chr2:g.16458252_16458258del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.16458252_16458258del , CM000664.2:g.16458252_16458258del	GRCh38
NC_000002.11:g.16639520_16639526del , CM000664.1:g.16639520_16639526del	GRCh37
NC_000002.10:g.16503001_16503007del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939752.1:n.396-3164_396-3158del