Canonical Allele Identifier: CA428750590

Gene:

Linked Data

• dbSNP Id: rs57680279
• gnomAD v2: 2-123126778-G-GGATAGATA
• gnomAD v3: 2-122369202-G-GGATAGATA
• gnomAD v4: 2-122369202-G-GGATAGATA
• MyVariant Identifiers: chr2:g.123126794_123126795insGATAGATA (hg19) ; chr2:g.123126778_123126779insGATAGATA (hg19) ; chr2:g.122369218_122369219insGATAGATA (hg38) ; chr2:g.122369202_122369203insGATAGATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.122369239_122369246dup , CM000664.2:g.122369239_122369246dup	GRCh38
NC_000002.11:g.123126815_123126822dup , CM000664.1:g.123126815_123126822dup	GRCh37
NC_000002.10:g.122843285_122843292dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923278.1:n.556-23724_556-23717dup
XR_001739684.1:n.556-23724_556-23717dup