Canonical Allele Identifier: CA1949567762

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226626_5226648delinsAGTGTGGCAAAGGTGCCCTTGAG , CM000673.2:g.5226626_5226648delinsAGTGTGGCAAAGGTGCCCTTGAG	GRCh38
NC_000011.9:g.5247856_5247878delinsAGTGTGGCAAAGGTGCCCTTGAG , CM000673.1:g.5247856_5247878delinsAGTGTGGCAAAGGTGCCCTTGAG	GRCh37
NC_000011.8:g.5204432_5204454delinsAGTGTGGCAAAGGTGCCCTTGAG	NCBI36
NG_000007.3:g.70968_70990delinsCTCAAGGGCACCTTTGCCACACT
NG_059281.1:g.5424_5446delinsCTCAAGGGCACCTTTGCCACACT

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.244_266delinsCTCAAGGGCACCTTTGCCACACT	ENSP00000494175.1:p.Leu82=
ENST00000335295.4:c.244_266delinsCTCAAGGGCACCTTTGCCACACT MANE Select	ENSP00000333994.3:p.Leu82=
ENST00000380315.2:c.244_266delinsCTCAAGGGCACCTTTGCCACACT	ENSP00000369671.2:p.Leu82=
ENST00000475226.1:n.176_198delinsCTCAAGGGCACCTTTGCCACACT
ENST00000485743.1:n.295_317delinsCTCAAGGGCACCTTTGCCACACT
ENST00000633227.1:c.*60_*82delinsCTCAAGGGCACCTTTGCCACACT	ENSP00000488004.1:n.*60_*82delinsCTCAAGGG...
NM_000518.4:c.244_266delinsCTCAAGGGCACCTTTGCCACACT	NP_000509.1:p.Leu82=
NM_000518.5:c.244_266delinsCTCAAGGGCACCTTTGCCACACT MANE Select	NP_000509.1:p.Leu82=