ClinGen Allele Registry
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Canonical Allele Identifier:
CA2954282332
Gene: ABO
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133257522del , CM000671.2:g.133257522del
GRCh38
NC_000009.11:g.136132909del , CM000671.1:g.136132909del
GRCh37
NC_000009.10:g.135122730del
NCBI36
NG_006669.1:g.20145del
NG_006669.2:g.22693del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.290del
ENST00000647353.1:n.54-6370del
ENST00000651471.1:n.329+520del
ENST00000679909.1:c.28+17640del
ENSP00000506089.1:n.28+17640del
ENST00000453660.3:n.272del
ENST00000538324.2:c.259-1del
ENSP00000483018.1:n.259-1del
ENST00000611156.4:c.259-1del
ENSP00000483265.1:n.259-1del
NM_020469.2:c.260del
NP_065202.2:p.Val87GlyfsTer?
NM_020469.3:c.260del
NP_065202.2:p.Val87GlyfsTer?
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