Canonical Allele Identifier: CA2695213042

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226672_5226673delinsAT , CM000673.2:g.5226672_5226673delinsAT	GRCh38
NC_000011.9:g.5247902_5247903delinsAT , CM000673.1:g.5247902_5247903delinsAT	GRCh37
NC_000011.8:g.5204478_5204479delinsAT	NCBI36
NG_000007.3:g.70943_70944delinsAT
NG_059281.1:g.5399_5400delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.219_220delinsAT	ENSP00000494175.1:p.Ser73_Asp74delinsArgT...
ENST00000335295.4:c.219_220delinsAT MANE Select	ENSP00000333994.3:p.Ser73_Asp74delinsArgT...
ENST00000380315.2:c.219_220delinsAT	ENSP00000369671.2:p.Ser73_Asp74delinsArgT...
ENST00000475226.1:n.151_152delinsAT
ENST00000485743.1:n.270_271delinsAT
ENST00000633227.1:c.*35_*36delinsAT	ENSP00000488004.1:n.*35_*36delinsAT
NM_000518.4:c.219_220delinsAT	NP_000509.1:p.Ser73_Asp74delinsArgTyr
NM_000518.5:c.219_220delinsAT MANE Select	NP_000509.1:p.Ser73_Asp74delinsArgTyr