Canonical Allele Identifier: CA2692330340

Gene: ABO

Linked Data

• gnomAD v4: 9-133255633-GCCGGCAGCCCTCCCAGAGCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255635_133255655del , CM000671.2:g.133255635_133255655del	GRCh38
NC_000009.11:g.136131022_136131042del , CM000671.1:g.136131022_136131042del	GRCh37
NC_000009.10:g.135120843_135120863del	NCBI36
NG_006669.1:g.22014_22034del
NG_006669.2:g.24562_24582del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1106_1126del
ENST00000647353.1:n.54-4502_54-4482del
ENST00000679909.1:c.28+19508_28+19528del	ENSP00000506089.1:n.28+19508_28+19528del
ENST00000453660.3:n.1088_1108del
ENST00000538324.2:c.1070_1090del	ENSP00000483018.1:p.Gly357_Pro363del
ENST00000611156.4:c.*12_*32del	ENSP00000483265.1:n.*12_*32del
NM_020469.2:c.*12_*32del	NP_065202.2:n.*12_*32del
NM_020469.3:c.*12_*32del	NP_065202.2:n.*12_*32del