Canonical Allele Identifier: CA2954284592
Gene: ABO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256169_133256170del , CM000671.2:g.133256169_133256170del GRCh38
NC_000009.11:g.136131556_136131557del , CM000671.1:g.136131556_136131557del GRCh37
NC_000009.10:g.135121377_135121378del NCBI36
NG_006669.1:g.21498_21499del
NG_006669.2:g.24046_24047del

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.590_591del
ENST00000647353.1:n.54-5018_54-5017del
ENST00000651471.1:n.516_517del
ENST00000679909.1:c.28+18992_28+18993del ENSP00000506089.1:n.28+18992_28+18993del
ENST00000453660.3:n.572_573del
ENST00000538324.2:c.558_559del ENSP00000483018.1:p.Arg187HisfsTer6
ENST00000611156.4:c.558_559del ENSP00000483265.1:p.Arg187HisfsTer6
NM_020469.2:c.561_562del NP_065202.2:p.Arg188HisfsTer6
NM_020469.3:c.561_562del NP_065202.2:p.Arg188HisfsTer6