Canonical Allele Identifier: CA1949569498
Gene: HBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226777_5226778delinsTC , CM000673.2:g.5226777_5226778delinsTC GRCh38
NC_000011.9:g.5248007_5248008delinsTC , CM000673.1:g.5248007_5248008delinsTC GRCh37
NC_000011.8:g.5204583_5204584delinsTC NCBI36
NG_000007.3:g.70838_70839delinsGA
NG_059281.1:g.5294_5295delinsGA

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.114_115delinsGA ENSP00000494175.1:p.Trp38=
ENST00000335295.4:c.114_115delinsGA MANE Select ENSP00000333994.3:p.Trp38=
ENST00000380315.2:c.114_115delinsGA ENSP00000369671.2:p.Trp38=
ENST00000475226.1:n.46_47delinsGA
ENST00000485743.1:n.165_166delinsGA
ENST00000633227.1:c.98_99delinsGA ENSP00000488004.1:p.Gly33=
NM_000518.4:c.114_115delinsGA NP_000509.1:p.Trp38=
NM_000518.5:c.114_115delinsGA MANE Select NP_000509.1:p.Trp38=