Canonical Allele Identifier: CA2692330296

Gene: ABO

Linked Data

• gnomAD v4: 9-133255200-ATGTAATGGTGTGTCTCTGTGGCGGGGAGGGGCTGCGTGTGATTGTGTGTCTGTGTGTGTCTTTCTGTGTATGTGTGTGTAATGGTGTGTTTCTGTGGCCGGAAGGGCGTATCTGCGATTGCGTGTCTGTGTATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255202_133255335del , CM000671.2:g.133255202_133255335del	GRCh38
NC_000009.11:g.136130589_136130722del , CM000671.1:g.136130589_136130722del	GRCh37
NC_000009.10:g.135120410_135120543del	NCBI36
NG_006669.1:g.22334_22467del
NG_006669.2:g.24882_25015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1426_1559del
ENST00000647353.1:n.54-4182_54-4049del
ENST00000679909.1:c.28+19828_28+19961del	ENSP00000506089.1:n.28+19828_28+19961del
ENST00000453660.3:n.1408_1541del
ENST00000611156.4:c.*332_*465del	ENSP00000483265.1:n.*332_*465del
NM_020469.2:c.*332_*465del	NP_065202.2:n.*332_*465del
NM_020469.3:c.*332_*465del	NP_065202.2:n.*332_*465del