Canonical Allele Identifier: CA124811
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15145
ClinVar RCV Id: RCV000016308
dbSNP Id: rs35660883

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225606_5225607insGA , CM000673.2:g.5225606_5225607insGA GRCh38
NC_000011.9:g.5246836_5246837insGA , CM000673.1:g.5246836_5246837insGA GRCh37
NC_000011.8:g.5203412_5203413insGA NCBI36
NG_000007.3:g.72010_72011insCT
NG_059281.1:g.6466_6467insCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.436_437insCT ENSP00000494175.1:p.Tyr146SerfsTer14
ENST00000335295.4:c.436_437insCT MANE Select ENSP00000333994.3:p.Tyr146SerfsTer14
ENST00000633227.1:c.*252_*253insCT ENSP00000488004.1:n.*252_*253insCT
NM_000518.4:c.436_437insCT NP_000509.1:p.Tyr146SerfsTer14
NM_000518.5:c.436_437insCT MANE Select NP_000509.1:p.Tyr146SerfsTer14