ClinGen Allele Registry
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Canonical Allele Identifier:
CA2786162986
Gene: ABO
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255674del , CM000671.2:g.133255674del
GRCh38
NC_000009.11:g.136131061del , CM000671.1:g.136131061del
GRCh37
NC_000009.10:g.135120882del
NCBI36
NG_006669.1:g.21995del
NG_006669.2:g.24543del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.1087del
ENST00000647353.1:n.54-4521del
ENST00000679909.1:c.28+19489del
ENSP00000506089.1:n.28+19489del
ENST00000453660.3:n.1069del
ENST00000538324.2:c.1054-3del
ENSP00000483018.1:n.1054-3del
ENST00000611156.4:c.1055del
ENSP00000483265.1:p.Asn352ThrfsTer24
NM_020469.2:c.1058del
NP_065202.2:p.Asn353ThrfsTer24
NM_020469.3:c.1058del
NP_065202.2:p.Asn353ThrfsTer24
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