Canonical Allele Identifier: CA531234601

Gene:

Linked Data

• dbSNP Id: rs1381790568
• gnomAD v2: 2-16639509-T-TTC
• gnomAD v3: 2-16458241-T-TTC
• gnomAD v4: 2-16458241-T-TTC
• MyVariant Identifiers: chr2:g.16639509_16639510insTC (hg19) ; chr2:g.16639510_16639526delinsTCCTCTCAGCTTCAAAAAG (hg19) ; chr2:g.16458241_16458242insTC (hg38) ; chr2:g.16458242_16458258delinsTCCTCTCAGCTTCAAAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.16458241_16458242insTC , CM000664.2:g.16458241_16458242insTC	GRCh38
NC_000002.11:g.16639509_16639510insTC , CM000664.1:g.16639509_16639510insTC	GRCh37
NC_000002.10:g.16502990_16502991insTC	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_939752.1:n.396-3148_396-3147insGA