Canonical Allele Identifier: CA1129714692

Gene: ABO

Linked Data

• gnomAD v3: 9-133255301-GAA-G
• gnomAD v4: 9-133255301-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255302_133255303del , CM000671.2:g.133255302_133255303del	GRCh38
NC_000009.11:g.136130689_136130690del , CM000671.1:g.136130689_136130690del	GRCh37
NC_000009.10:g.135120510_135120511del	NCBI36
NG_006669.1:g.22365_22366del
NG_006669.2:g.24913_24914del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1457_1458del
ENST00000647353.1:n.54-4151_54-4150del
ENST00000679909.1:c.28+19859_28+19860del	ENSP00000506089.1:n.28+19859_28+19860del
ENST00000453660.3:n.1439_1440del
ENST00000611156.4:c.*363_*364del	ENSP00000483265.1:n.*363_*364del
NM_020469.2:c.*363_*364del	NP_065202.2:n.*363_*364del
NM_020469.3:c.*363_*364del	NP_065202.2:n.*363_*364del