Canonical Allele Identifier: CA2692330302

Gene: ABO

Linked Data

• gnomAD v4: 9-133255276-GTGTAATGGTGTGTTTCTGTGGCCGGAAGGGCGTATCTGCGATTGCGTGTCTGTGTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255290_133255345del , CM000671.2:g.133255290_133255345del	GRCh38
NC_000009.11:g.136130677_136130732del , CM000671.1:g.136130677_136130732del	GRCh37
NC_000009.10:g.135120498_135120553del	NCBI36
NG_006669.1:g.22336_22391del
NG_006669.2:g.24884_24939del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1428_1483del
ENST00000647353.1:n.54-4180_54-4125del
ENST00000679909.1:c.28+19830_28+19885del	ENSP00000506089.1:n.28+19830_28+19885del
ENST00000453660.3:n.1410_1465del
ENST00000611156.4:c.*334_*389del	ENSP00000483265.1:n.*334_*389del
NM_020469.2:c.*334_*389del	NP_065202.2:n.*334_*389del
NM_020469.3:c.*334_*389del	NP_065202.2:n.*334_*389del