Canonical Allele Identifier: CA1949567442

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226589_5226591delinsAGG , CM000673.2:g.5226589_5226591delinsAGG	GRCh38
NC_000011.9:g.5247819_5247821delinsAGG , CM000673.1:g.5247819_5247821delinsAGG	GRCh37
NC_000011.8:g.5204395_5204397delinsAGG	NCBI36
NG_000007.3:g.71025_71027delinsCCT
NG_059281.1:g.5481_5483delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.301_303delinsCCT	ENSP00000494175.1:p.Pro101=
ENST00000335295.4:c.301_303delinsCCT MANE Select	ENSP00000333994.3:p.Pro101=
ENST00000475226.1:n.233_235delinsCCT
ENST00000485743.1:n.352_354delinsCCT
ENST00000633227.1:c.*117_*119delinsCCT	ENSP00000488004.1:n.*117_*119delinsCCT
NM_000518.4:c.301_303delinsCCT	NP_000509.1:p.Pro101=
NM_000518.5:c.301_303delinsCCT MANE Select	NP_000509.1:p.Pro101=