ClinGen Allele Registry
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Canonical Allele Identifier:
CA5305827
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs563704490
ExAC:
9:136131621 GT / G
gnomAD v2:
9-136131621-GT-G
gnomAD v3:
9-133256234-GT-G
gnomAD v4:
9-133256234-GT-G
MyVariant Identifiers:
chr9:g.136131622del (hg19)
chr9:g.133256235del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256235del , CM000671.2:g.133256235del
GRCh38
NC_000009.11:g.136131622del , CM000671.1:g.136131622del
GRCh37
NC_000009.10:g.135121443del
NCBI36
NG_006669.1:g.21433del
NG_006669.2:g.23981del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.525del
ENST00000647353.1:n.54-5083del
ENST00000651471.1:n.451del
ENST00000679909.1:c.28+18927del
ENSP00000506089.1:n.28+18927del
ENST00000453660.3:n.507del
ENST00000538324.2:c.493del
ENSP00000483018.1:p.Thr165ProfsTer26
ENST00000611156.4:c.493del
ENSP00000483265.1:p.Thr165ProfsTer26
NM_020469.2:c.496del
NP_065202.2:p.Thr166ProfsTer26
NM_020469.3:c.496del
NP_065202.2:p.Thr166ProfsTer26
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