Canonical Allele Identifier: CA528656583

Gene:

Linked Data

• dbSNP Id: rs1448924841
• gnomAD v2: 1-211552951-G-GTA
• gnomAD v3: 1-211379609-G-GTA
• gnomAD v4: 1-211379609-G-GTA
• MyVariant Identifiers: chr1:g.211552951_211552952insTA (hg19) ; chr1:g.211379609_211379610insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211379613_211379614dup , CM000663.2:g.211379613_211379614dup	GRCh38
NC_000001.10:g.211552955_211552956dup , CM000663.1:g.211552955_211552956dup	GRCh37
NC_000001.9:g.209619578_209619579dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001738446.1:n.292-2495_292-2494dup