Canonical Allele Identifier: CA1640908833

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80107010_80107012delinsACT , CM000668.2:g.80107010_80107012delinsACT	GRCh38
NC_000006.11:g.80816727_80816729delinsACT , CM000668.1:g.80816727_80816729delinsACT	GRCh37
NC_000006.10:g.80873446_80873448delinsACT	NCBI36
NG_009775.1:g.5384_5386delinsACT
NG_009775.2:g.5384_5386delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.196+121_196+123delinsACT MANE Select	ENSP00000318351.5:n.196+121_196+123delinsACT
ENST00000320393.8:c.196+121_196+123delinsACT	ENSP00000318351.5:n.196+121_196+123delinsACT
ENST00000356489.9:c.196+121_196+123delinsACT	ENSP00000348880.5:n.196+121_196+123delinsACT
ENST00000369760.8:c.196+121_196+123delinsACT	ENSP00000358775.4:n.196+121_196+123delinsACT
NM_000056.3:c.196+121_196+123delinsACT	NP_000047.1:n.196+121_196+123delinsACT
NM_183050.2:c.196+121_196+123delinsACT	NP_898871.1:n.196+121_196+123delinsACT
XM_005248756.3:c.196+121_196+123delinsACT	XP_005248813.1:n.196+121_196+123delinsACT
XM_006715542.2:c.-15+327_-15+329delinsACT	XP_006715605.1:n.-15+327_-15+329delinsACT
XM_011536023.1:c.196+121_196+123delinsACT	XP_011534325.1:n.196+121_196+123delinsACT
XM_011536024.1:c.196+121_196+123delinsACT	XP_011534326.1:n.196+121_196+123delinsACT
XM_011536025.1:c.196+121_196+123delinsACT	XP_011534327.1:n.196+121_196+123delinsACT
XM_011536027.1:c.196+121_196+123delinsACT	XP_011534329.1:n.196+121_196+123delinsACT
NM_000056.4:c.196+121_196+123delinsACT	NP_000047.1:n.196+121_196+123delinsACT
NM_001318975.1:c.-15+327_-15+329delinsACT	NP_001305904.1:n.-15+327_-15+329delinsACT
NM_183050.3:c.196+121_196+123delinsACT	NP_898871.1:n.196+121_196+123delinsACT
NR_134945.1:n.280+121_280+123delinsACT
XM_005248756.5:c.196+121_196+123delinsACT	XP_005248813.1:n.196+121_196+123delinsACT
XM_011536023.3:c.196+121_196+123delinsACT	XP_011534325.1:n.196+121_196+123delinsACT
XM_011536024.3:c.196+121_196+123delinsACT	XP_011534326.1:n.196+121_196+123delinsACT
XM_011536025.3:c.196+121_196+123delinsACT	XP_011534327.1:n.196+121_196+123delinsACT
XR_001743546.2:n.226+121_226+123delinsACT
XR_001743547.2:n.226+121_226+123delinsACT
XR_001743548.2:n.226+121_226+123delinsACT
XR_001743549.2:n.226+121_226+123delinsACT
XR_002956292.1:n.226+121_226+123delinsACT
NM_183050.4:c.196+121_196+123delinsACT MANE Select	NP_898871.1:n.196+121_196+123delinsACT
NR_134945.2:n.219+121_219+123delinsACT
NM_000056.5:c.196+121_196+123delinsACT	NP_000047.1:n.196+121_196+123delinsACT