Canonical Allele Identifier: CA125198
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 439161
ClinVar RCV Id: RCV000016621 RCV000506874 RCV001375559 RCV003313962
dbSNP Id: rs33999427
MyVariant Identifiers: chr11:g.5246831_5246832dup (hg19) chr11:g.5246832_5246833dupTG (hg19) chr11:g.5246830_5246831insGT (hg19) chr11:g.5225601_5225602dup (hg38) chr11:g.5225602_5225603dupTG (hg38) chr11:g.5225600_5225601insGT (hg38)
PubMed: PMID:4101432 PMID:9494047 PMID:12621249 PMID:15768557 PMID:19460936 PMID:20353353 PMID:20395516 PMID:22145566 PMID:26544676
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225602_5225603dup , CM000673.2:g.5225602_5225603dup GRCh38
NC_000011.9:g.5246832_5246833dup , CM000673.1:g.5246832_5246833dup GRCh37
NC_000011.8:g.5203408_5203409dup NCBI36
NG_000007.3:g.72014_72015dup
NG_059281.1:g.6470_6471dup

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.440_441dup ENSP00000494175.1:p.Ter148ThrextTer12
ENST00000335295.4:c.440_441dup MANE Select ENSP00000333994.3:p.Ter148ThrextTer12
ENST00000633227.1:c.*256_*257dup ENSP00000488004.1:n.*256_*257dup
NM_000518.4:c.440_441dup NP_000509.1:p.Ter148ThrextTer12
NM_000518.5:c.440_441dup MANE Select NP_000509.1:p.Ter148ThrextTer12
Search 100 bp 5'
Search 100 bp 3'