Canonical Allele Identifier: CA2954284607

Gene: ABO

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256187_133256188insTCAGTGCTGGAGGTGCGCGCCTACAAGCGCTGGCAGGACGTGTCCATGCGCCGCATGGAGACGTCCTG , CM000671.2:g.133256187_133256188insTCAGTGCTGGAGGTGCGCGCCTACAAGCGCTGGCAGGACGTGTCCATGCGCCGCATGGAGACGTCCTG	GRCh38
NC_000009.11:g.136131574_136131575insTCAGTGCTGGAGGTGCGCGCCTACAAGCGCTGGCAGGACGTGTCCATGCGCCGCATGGAGACGTCCTG , CM000671.1:g.136131574_136131575insTCAGTGCTGGAGGTGCGCGCCTACAAGCGCTGGCAGGACGTGTCCATGCGCCGCATGGAGACGTCCTG	GRCh37
NC_000009.10:g.135121395_135121396insTCAGTGCTGGAGGTGCGCGCCTACAAGCGCTGGCAGGACGTGTCCATGCGCCGCATGGAGACGTCCTG	NCBI36
NG_006669.1:g.21488_21489insCTCCATGCGGCGCATGGACACGTCCTGCCAGCGCTTGTAGGCGCGCACCTCCAGCACTGACAGGACGT
NG_006669.2:g.24036_24037insCTCCATGCGGCGCATGGACACGTCCTGCCAGCGCTTGTAGGCGCGCACCTCCAGCACTGACAGGACGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.580_581insCTCCATGCGGCGCATGGACACGTCCTGCCAGCGCTTGTAGGCGCGCACCTCCAGCACTGACAGGACGT
ENST00000647353.1:n.54-5028_54-5027insCTCCATGCGGCGCATGGACACGTCCTGCCAGCGCTTGTAGGCGCGCACCTCCAGCACTGACAGGACGT
ENST00000651471.1:n.506_507insCTCCATGCGGCGCATGGACACGTCCTGCCAGCGCTTGTAGGCGCGCACCTCCAGCACTGACAGGACGT
ENST00000679909.1:c.28+18982_28+18983insCTCCATGCGGCGCATGGACACGTCCTGCCAGCGCTTGTAGGCGCGCACCTCCAGCACTGACAGGACGT	ENSP00000506089.1:n.28+18982_28+18983insCTCCATGCGGCGCATGGACAC...
ENST00000453660.3:n.562_563insCTCCATGCGGCGCATGGACACGTCCTGCCAGCGCTTGTAGGCGCGCACCTCCAGCACTGACAGGACGT
ENST00000538324.2:c.548_549insCTCCATGCGGCGCATGGACACGTCCTGCCAGCGCTTGTAGGCGCGCACCTCCAGCACTGACAGGACGT	ENSP00000483018.1:p.Glu189AspfsTer8
ENST00000611156.4:c.548_549insCTCCATGCGGCGCATGGACACGTCCTGCCAGCGCTTGTAGGCGCGCACCTCCAGCACTGACAGGACGT	ENSP00000483265.1:p.Glu189AspfsTer8
NM_020469.2:c.551_552insCTCCATGCGGCGCATGGACACGTCCTGCCAGCGCTTGTAGGCGCGCACCTCCAGCACTGACAGGACGT	NP_065202.2:p.Glu190AspfsTer8
NM_020469.3:c.551_552insCTCCATGCGGCGCATGGACACGTCCTGCCAGCGCTTGTAGGCGCGCACCTCCAGCACTGACAGGACGT	NP_065202.2:p.Glu190AspfsTer8