ClinGen Allele Registry
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Canonical Allele Identifier:
CA2786163259
Gene: ABO
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133257424del , CM000671.2:g.133257424del
GRCh38
NC_000009.11:g.136132811del , CM000671.1:g.136132811del
GRCh37
NC_000009.10:g.135122632del
NCBI36
NG_006669.1:g.20244del
NG_006669.2:g.22792del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.388del
ENST00000647353.1:n.54-6272del
ENST00000651471.1:n.329+618del
ENST00000679909.1:c.28+17738del
ENSP00000506089.1:n.28+17738del
ENST00000453660.3:n.370del
ENST00000538324.2:c.356del
ENSP00000483018.1:p.Val119GlyfsTer11
ENST00000611156.4:c.356del
ENSP00000483265.1:p.Val119GlyfsTer11
NM_020469.2:c.359del
NP_065202.2:p.Val120GlyfsTer11
NM_020469.3:c.359del
NP_065202.2:p.Val120GlyfsTer11
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