ClinGen Allele Registry
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Canonical Allele Identifier:
CA860752500
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs1484483903
MyVariant Identifiers:
chr9:g.136131391del (hg19)
chr9:g.133256004del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256005del , CM000671.2:g.133256005del
GRCh38
NC_000009.11:g.136131392del , CM000671.1:g.136131392del
GRCh37
NC_000009.10:g.135121213del
NCBI36
NG_006669.1:g.21664del
NG_006669.2:g.24212del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.756del
ENST00000647353.1:n.54-4852del
ENST00000679909.1:c.28+19158del
ENSP00000506089.1:n.28+19158del
ENST00000453660.3:n.738del
ENST00000538324.2:c.724del
ENSP00000483018.1:p.Ala242ProfsTer?
ENST00000611156.4:c.724del
ENSP00000483265.1:p.Ala242ProfsTer?
NM_020469.2:c.727del
NP_065202.2:p.Ala243ProfsTer?
NM_020469.3:c.727del
NP_065202.2:p.Ala243ProfsTer?
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