Canonical Allele Identifier: CA1949568902

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226726_5226727delinsTA , CM000673.2:g.5226726_5226727delinsTA	GRCh38
NC_000011.9:g.5247956_5247957delinsTA , CM000673.1:g.5247956_5247957delinsTA	GRCh37
NC_000011.8:g.5204532_5204533delinsTA	NCBI36
NG_000007.3:g.70889_70890delinsTA
NG_059281.1:g.5345_5346delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.165_166delinsTA	ENSP00000494175.1:p.Val55=
ENST00000335295.4:c.165_166delinsTA MANE Select	ENSP00000333994.3:p.Val55=
ENST00000380315.2:c.165_166delinsTA	ENSP00000369671.2:p.Val55=
ENST00000475226.1:n.97_98delinsTA
ENST00000485743.1:n.216_217delinsTA
ENST00000633227.1:c.149_150delinsTA	ENSP00000488004.1:p.Leu50=
NM_000518.4:c.165_166delinsTA	NP_000509.1:p.Val55=
NM_000518.5:c.165_166delinsTA MANE Select	NP_000509.1:p.Val55=