Canonical Allele Identifier: CA2580084003

Gene: HBB

Linked Data

• ClinVar Variation Id: 15499
• ClinVar RCV Id: RCV000016761

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226665_5226671delinsTGGCACCGAG , CM000673.2:g.5226665_5226671delinsTGGCACCGAG	GRCh38
NC_000011.9:g.5247895_5247901delinsTGGCACCGAG , CM000673.1:g.5247895_5247901delinsTGGCACCGAG	GRCh37
NC_000011.8:g.5204471_5204477delinsTGGCACCGAG	NCBI36
NG_000007.3:g.70945_70951delinsCTCGGTGCCA
NG_059281.1:g.5401_5407delinsCTCGGTGCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.221_227delinsCTCGGTGCCA	ENSP00000494175.1:p.Asp74_Leu76delinsAlaA...
ENST00000335295.4:c.221_227delinsCTCGGTGCCA MANE Select	ENSP00000333994.3:p.Asp74_Leu76delinsAlaA...
ENST00000380315.2:c.221_227delinsCTCGGTGCCA	ENSP00000369671.2:p.Asp74_Leu76delinsAlaA...
ENST00000475226.1:n.153_159delinsCTCGGTGCCA
ENST00000485743.1:n.272_278delinsCTCGGTGCCA
ENST00000633227.1:c.*37_*43delinsCTCGGTGCCA	ENSP00000488004.1:n.*37_*43delinsCTCGGTGC...
NM_000518.4:c.221_227delinsCTCGGTGCCA	NP_000509.1:p.Asp74_Leu76delinsAlaArgCysG...
NM_000518.5:c.221_227delinsCTCGGTGCCA MANE Select	NP_000509.1:p.Asp74_Leu76delinsAlaArgCysG...