ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1882579445
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs1834561794
gnomAD v4:
9-133255758-A-AC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255759dup , CM000671.2:g.133255759dup
GRCh38
NC_000009.11:g.136131146dup , CM000671.1:g.136131146dup
GRCh37
NC_000009.10:g.135120967dup
NCBI36
NG_006669.1:g.21909dup
NG_006669.2:g.24457dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.1001dup
ENST00000647353.1:n.54-4607dup
ENST00000679909.1:c.28+19403dup
ENSP00000506089.1:n.28+19403dup
ENST00000453660.3:n.983dup
ENST00000538324.2:c.969dup
ENSP00000483018.1:p.Trp324ValfsTer30
ENST00000611156.4:c.969dup
ENSP00000483265.1:p.Trp324ValfsTer?
NM_020469.2:c.972dup
NP_065202.2:p.Trp325ValfsTer?
NM_020469.3:c.972dup
NP_065202.2:p.Trp325ValfsTer?
Search 100 bp 5'
Search 100 bp 3'