Canonical Allele Identifier: CA591377546

Gene: ABO

Linked Data

• gnomAD v2: 9-136130486-TGTGTCTGTGTGTGTCTGTGTATGTAATGGTGTGTCTCTGTGGCGGGGAGGGTGTGTGTGTGATTTTGTGTCTGTGTGTGTCTTTCTGTGTGTGTCTGTGTATGTAATGGTGTGTCTCTGTGGCGGGGAGGGGCTGCGTGTGATTGTGTGTCTGTGTGTGTCTTTCTGTGTATGTGTGTGTAATGGTGTGTTTCTGTGGCCGGAAGGGCGTATCTGCGATTGC-T
• gnomAD v3: 9-133255099-TGTGTCTGTGTGTGTCTGTGTATGTAATGGTGTGTCTCTGTGGCGGGGAGGGTGTGTGTGTGATTTTGTGTCTGTGTGTGTCTTTCTGTGTGTGTCTGTGTATGTAATGGTGTGTCTCTGTGGCGGGGAGGGGCTGCGTGTGATTGTGTGTCTGTGTGTGTCTTTCTGTGTATGTGTGTGTAATGGTGTGTTTCTGTGGCCGGAAGGGCGTATCTGCGATTGC-T
• gnomAD v4: 9-133255099-TGTGTCTGTGTGTGTCTGTGTATGTAATGGTGTGTCTCTGTGGCGGGGAGGGTGTGTGTGTGATTTTGTGTCTGTGTGTGTCTTTCTGTGTGTGTCTGTGTATGTAATGGTGTGTCTCTGTGGCGGGGAGGGGCTGCGTGTGATTGTGTGTCTGTGTGTGTCTTTCTGTGTATGTGTGTGTAATGGTGTGTTTCTGTGGCCGGAAGGGCGTATCTGCGATTGC-T
• MyVariant Identifiers: chr9:g.136130487_136130708del (hg19) ; chr9:g.133255100_133255321del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255110_133255331del , CM000671.2:g.133255110_133255331del	GRCh38
NC_000009.11:g.136130497_136130718del , CM000671.1:g.136130497_136130718del	GRCh37
NC_000009.10:g.135120318_135120539del	NCBI36
NG_006669.2:g.24895_25116del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1439_1660del
ENST00000647353.1:n.54-4169_54-3948del
ENST00000679909.1:c.28+19841_28+20062del	ENSP00000506089.1:n.28+19841_28+20062del
ENST00000453660.3:n.1421_1642del
NM_020469.3:c.*345_*566del	NP_065202.2:n.*345_*566del