Canonical Allele Identifier: CA2692330810

Gene: ABO

Linked Data

• gnomAD v4: 9-133258115-GGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133258116_133258117del , CM000671.2:g.133258116_133258117del	GRCh38
NG_006669.1:g.19547_19548del
NG_006669.2:g.22098_22099del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.249_250del
ENST00000647353.1:n.54-6965_54-6964del
ENST00000651471.1:n.254_255del
ENST00000679909.1:c.28+17045_28+17046del	ENSP00000506089.1:n.28+17045_28+17046del
ENST00000453660.3:n.231_232del
ENST00000538324.2:c.219_220del	ENSP00000483018.1:p.Gln73HisfsTer8
ENST00000611156.4:c.219_220del	ENSP00000483265.1:p.Gln73HisfsTer8
NM_020469.2:c.219_220del	NP_065202.2:p.Gln73HisfsTer8
NM_020469.3:c.219_220del	NP_065202.2:p.Gln73HisfsTer8