Canonical Allele Identifier: CA1949569906
Gene: HBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226862_5226864delinsCTT , CM000673.2:g.5226862_5226864delinsCTT GRCh38
NC_000011.9:g.5248092_5248094delinsCTT , CM000673.1:g.5248092_5248094delinsCTT GRCh37
NC_000011.8:g.5204668_5204670delinsCTT NCBI36
NG_000007.3:g.70752_70754delinsAAG
NG_059281.1:g.5208_5210delinsAAG

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.93-65_93-63delinsAAG ENSP00000494175.1:n.93-65_93-63delinsAAG
ENST00000335295.4:c.93-65_93-63delinsAAG MANE Select ENSP00000333994.3:n.93-65_93-63delinsAAG
ENST00000380315.2:c.93-65_93-63delinsAAG ENSP00000369671.2:n.93-65_93-63delinsAAG
ENST00000485743.1:n.144-65_144-63delinsAAG
ENST00000633227.1:c.77-65_77-63delinsAAG ENSP00000488004.1:n.77-65_77-63delinsAAG
NM_000518.4:c.93-65_93-63delinsAAG NP_000509.1:n.93-65_93-63delinsAAG
NM_000518.5:c.93-65_93-63delinsAAG MANE Select NP_000509.1:n.93-65_93-63delinsAAG