Canonical Allele Identifier: CA185510378

Gene:

Linked Data

• dbSNP Id: rs33924196
• gnomAD v2: 8-126486230-G-GTT
• gnomAD v3: 8-125473988-G-GTT
• gnomAD v4: 8-125473988-G-GTT
• MyVariant Identifiers: chr8:g.126486241_126486242insTT (hg19) ; chr8:g.126486231_126486232insTT (hg19) ; chr8:g.126486230_126486231insTT (hg19) ; chr8:g.125473999_125474000insTT (hg38) ; chr8:g.125473989_125473990insTT (hg38) ; chr8:g.125473988_125473989insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125473998_125473999dup , CM000670.2:g.125473998_125473999dup	GRCh38
NC_000008.10:g.126486240_126486241dup , CM000670.1:g.126486240_126486241dup	GRCh37
NC_000008.9:g.126555422_126555423dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+684_256+685dup