Canonical Allele Identifier: CA2695213076

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227011_5227012delinsTT , CM000673.2:g.5227011_5227012delinsTT	GRCh38
NC_000011.9:g.5248241_5248242delinsTT , CM000673.1:g.5248241_5248242delinsTT	GRCh37
NC_000011.8:g.5204817_5204818delinsTT	NCBI36
NG_000007.3:g.70604_70605delinsAA
NG_059281.1:g.5060_5061delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.10_11delinsAA	ENSP00000494175.1:p.Leu4Lys
ENST00000335295.4:c.10_11delinsAA MANE Select	ENSP00000333994.3:p.Leu4Lys
ENST00000380315.2:c.10_11delinsAA	ENSP00000369671.2:p.Leu4Lys
ENST00000485743.1:n.61_62delinsAA
ENST00000633227.1:c.10_11delinsAA	ENSP00000488004.1:p.Leu4Lys
NM_000518.4:c.10_11delinsAA	NP_000509.1:p.Leu4Lys
NM_000518.5:c.10_11delinsAA MANE Select	NP_000509.1:p.Leu4Lys