Canonical Allele Identifier: CA1129714686

Gene: ABO

Linked Data

• gnomAD v3: 9-133255298-CCGGA-C
• gnomAD v4: 9-133255298-CCGGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255299_133255302del , CM000671.2:g.133255299_133255302del	GRCh38
NC_000009.11:g.136130686_136130689del , CM000671.1:g.136130686_136130689del	GRCh37
NC_000009.10:g.135120507_135120510del	NCBI36
NG_006669.1:g.22366_22369del
NG_006669.2:g.24914_24917del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1458_1461del
ENST00000647353.1:n.54-4150_54-4147del
ENST00000679909.1:c.28+19860_28+19863del	ENSP00000506089.1:n.28+19860_28+19863del
ENST00000453660.3:n.1440_1443del
ENST00000611156.4:c.*364_*367del	ENSP00000483265.1:n.*364_*367del
NM_020469.2:c.*364_*367del	NP_065202.2:n.*364_*367del
NM_020469.3:c.*364_*367del	NP_065202.2:n.*364_*367del