Canonical Allele Identifier: CA1949568223

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226662_5226668delinsGCCAGGC , CM000673.2:g.5226662_5226668delinsGCCAGGC	GRCh38
NC_000011.9:g.5247892_5247898delinsGCCAGGC , CM000673.1:g.5247892_5247898delinsGCCAGGC	GRCh37
NC_000011.8:g.5204468_5204474delinsGCCAGGC	NCBI36
NG_000007.3:g.70948_70954delinsGCCTGGC
NG_059281.1:g.5404_5410delinsGCCTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.224_230delinsGCCTGGC	ENSP00000494175.1:p.Gly75=
ENST00000335295.4:c.224_230delinsGCCTGGC MANE Select	ENSP00000333994.3:p.Gly75=
ENST00000380315.2:c.224_230delinsGCCTGGC	ENSP00000369671.2:p.Gly75=
ENST00000475226.1:n.156_162delinsGCCTGGC
ENST00000485743.1:n.275_281delinsGCCTGGC
ENST00000633227.1:c.*40_*46delinsGCCTGGC	ENSP00000488004.1:n.*40_*46delinsGCCTGGC
NM_000518.4:c.224_230delinsGCCTGGC	NP_000509.1:p.Gly75=
NM_000518.5:c.224_230delinsGCCTGGC MANE Select	NP_000509.1:p.Gly75=