ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1882580838
Gene: ABO
HGNC
NCBI
Linked Data - NCBI & NCI
dbSNP:
1834581242
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256269del , CM000671.2:g.133256269del
GRCh38
NC_000009.11:g.136131656del , CM000671.1:g.136131656del
GRCh37
NC_000009.10:g.135121477del
NCBI36
NG_006669.1:g.21400del
NG_006669.2:g.23948del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.492del
ENST00000647353.1:n.54-5116del
ENST00000651471.1:n.418del
ENST00000679909.1:c.28+18894del
ENSP00000506089.1:n.28+18894del
ENST00000453660.3:n.474del
ENST00000538324.2:c.460del
ENSP00000483018.1:p.Gln154SerfsTer8
ENST00000611156.4:c.460del
ENSP00000483265.1:p.Gln154SerfsTer8
NM_020469.2:c.463del
NP_065202.2:p.Gln155SerfsTer8
NM_020469.3:c.463del
NP_065202.2:p.Gln155SerfsTer8
Search 100 bp 5'
Search 100 bp 3'