Canonical Allele Identifier: CA2741060184
Gene: ABO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255920_133255921insACAGAGACACACCATTACATACACAGACACGCAATCGCAGATAC , CM000671.2:g.133255920_133255921insACAGAGACACACCATTACATACACAGACACGCAATCGCAGATAC GRCh38
NC_000009.11:g.136131307_136131308insACAGAGACACACCATTACATACACAGACACGCAATCGCAGATAC , CM000671.1:g.136131307_136131308insACAGAGACACACCATTACATACACAGACACGCAATCGCAGATAC GRCh37
NC_000009.10:g.135121128_135121129insACAGAGACACACCATTACATACACAGACACGCAATCGCAGATAC NCBI36
NG_006669.1:g.21748_21749insTATCTGCGATTGCGTGTCTGTGTATGTAATGGTGTGTCTCTGTG
NG_006669.2:g.24296_24297insTATCTGCGATTGCGTGTCTGTGTATGTAATGGTGTGTCTCTGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.840_841insTATCTGCGATTGCGTGTCTGTGTATGTAATGGTGTGTCTCTGTG
ENST00000647353.1:n.54-4768_54-4767insTATCTGCGATTGCGTGTCTGTGTATGTAATGGTGTGTCTCTGTG
ENST00000679909.1:c.28+19242_28+19243insTATCTGCGATTGCGTGTCTGTGTATGTAATGGTGTGTCTCTGTG ENSP00000506089.1:n.28+19242_28+19243insTATCTGCGATTGCGTGTCTGT...
ENST00000453660.3:n.822_823insTATCTGCGATTGCGTGTCTGTGTATGTAATGGTGTGTCTCTGTG
ENST00000538324.2:c.808_809insTATCTGCGATTGCGTGTCTGTGTATGTAATGGTGTGTCTCTGTG ENSP00000483018.1:p.Gly270ValfsTer10
ENST00000611156.4:c.808_809insTATCTGCGATTGCGTGTCTGTGTATGTAATGGTGTGTCTCTGTG ENSP00000483265.1:p.Gly270ValfsTer10
NM_020469.2:c.811_812insTATCTGCGATTGCGTGTCTGTGTATGTAATGGTGTGTCTCTGTG NP_065202.2:p.Gly271ValfsTer10
NM_020469.3:c.811_812insTATCTGCGATTGCGTGTCTGTGTATGTAATGGTGTGTCTCTGTG NP_065202.2:p.Gly271ValfsTer10