ClinGen Allele Registry
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Canonical Allele Identifier:
CA591377531
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs1379217481
gnomAD v2:
9-136131498-AG-A
MyVariant Identifiers:
chr9:g.136131499del (hg19)
chr9:g.133256112del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256113del , CM000671.2:g.133256113del
GRCh38
NC_000009.11:g.136131500del , CM000671.1:g.136131500del
GRCh37
NC_000009.10:g.135121321del
NCBI36
NG_006669.1:g.21556del
NG_006669.2:g.24104del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.648del
ENST00000647353.1:n.54-4960del
ENST00000651471.1:n.574del
ENST00000679909.1:c.28+19050del
ENSP00000506089.1:n.28+19050del
ENST00000453660.3:n.630del
ENST00000538324.2:c.616del
ENSP00000483018.1:p.Leu206TrpfsTer19
ENST00000611156.4:c.616del
ENSP00000483265.1:p.Leu206TrpfsTer19
NM_020469.2:c.619del
NP_065202.2:p.Leu207TrpfsTer19
NM_020469.3:c.619del
NP_065202.2:p.Leu207TrpfsTer19
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