Canonical Allele Identifier: CA1640908718

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106844_80106845delinsGT , CM000668.2:g.80106844_80106845delinsGT	GRCh38
NC_000006.11:g.80816561_80816562delinsGT , CM000668.1:g.80816561_80816562delinsGT	GRCh37
NC_000006.10:g.80873280_80873281delinsGT	NCBI36
NG_009775.1:g.5218_5219delinsGT
NG_009775.2:g.5218_5219delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.151_152delinsGT MANE Select	ENSP00000318351.5:p.Val51=
ENST00000320393.8:c.151_152delinsGT	ENSP00000318351.5:p.Val51=
ENST00000356489.9:c.151_152delinsGT	ENSP00000348880.5:p.Val51=
ENST00000369760.8:c.151_152delinsGT	ENSP00000358775.4:p.Val51=
NM_000056.3:c.151_152delinsGT	NP_000047.1:p.Val51=
NM_183050.2:c.151_152delinsGT	NP_898871.1:p.Val51=
XM_005248756.3:c.151_152delinsGT	XP_005248813.1:p.Val51=
XM_006715542.2:c.-15+161_-15+162delinsGT	XP_006715605.1:n.-15+161_-15+162delinsGT
XM_011536023.1:c.151_152delinsGT	XP_011534325.1:p.Val51=
XM_011536024.1:c.151_152delinsGT	XP_011534326.1:p.Val51=
XM_011536025.1:c.151_152delinsGT	XP_011534327.1:p.Val51=
XM_011536027.1:c.151_152delinsGT	XP_011534329.1:p.Val51=
NM_000056.4:c.151_152delinsGT	NP_000047.1:p.Val51=
NM_001318975.1:c.-15+161_-15+162delinsGT	NP_001305904.1:n.-15+161_-15+162delinsGT
NM_183050.3:c.151_152delinsGT	NP_898871.1:p.Val51=
NR_134945.1:n.235_236delinsGT
XM_005248756.5:c.151_152delinsGT	XP_005248813.1:p.Val51=
XM_011536023.3:c.151_152delinsGT	XP_011534325.1:p.Val51=
XM_011536024.3:c.151_152delinsGT	XP_011534326.1:p.Val51=
XM_011536025.3:c.151_152delinsGT	XP_011534327.1:p.Val51=
XR_001743546.2:n.181_182delinsGT
XR_001743547.2:n.181_182delinsGT
XR_001743548.2:n.181_182delinsGT
XR_001743549.2:n.181_182delinsGT
XR_002956292.1:n.181_182delinsGT
NM_183050.4:c.151_152delinsGT MANE Select	NP_898871.1:p.Val51=
NR_134945.2:n.174_175delinsGT
NM_000056.5:c.151_152delinsGT	NP_000047.1:p.Val51=