Canonical Allele Identifier: CA915944361

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 653956
• ClinVar RCV Id: RCV000809821
• dbSNP Id: rs1582146989

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106763_80106764insTTCCTGGCAGGGGCTGAGGA , CM000668.2:g.80106763_80106764insTTCCTGGCAGGGGCTGAGGA	GRCh38
NC_000006.11:g.80816480_80816481insTTCCTGGCAGGGGCTGAGGA , CM000668.1:g.80816480_80816481insTTCCTGGCAGGGGCTGAGGA	GRCh37
NC_000006.10:g.80873199_80873200insTTCCTGGCAGGGGCTGAGGA	NCBI36
NG_009775.1:g.5137_5138insTTCCTGGCAGGGGCTGAGGA
NG_009775.2:g.5137_5138insTTCCTGGCAGGGGCTGAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.70_71insTTCCTGGCAGGGGCTGAGGA MANE Select	ENSP00000318351.5:p.Arg24LeufsTer6
ENST00000320393.8:c.70_71insTTCCTGGCAGGGGCTGAGGA	ENSP00000318351.5:p.Arg24LeufsTer6
ENST00000356489.9:c.70_71insTTCCTGGCAGGGGCTGAGGA	ENSP00000348880.5:p.Arg24LeufsTer6
ENST00000369760.8:c.70_71insTTCCTGGCAGGGGCTGAGGA	ENSP00000358775.4:p.Arg24LeufsTer6
NM_000056.3:c.70_71insTTCCTGGCAGGGGCTGAGGA	NP_000047.1:p.Arg24LeufsTer6
NM_183050.2:c.70_71insTTCCTGGCAGGGGCTGAGGA	NP_898871.1:p.Arg24LeufsTer6
XM_005248756.3:c.70_71insTTCCTGGCAGGGGCTGAGGA	XP_005248813.1:p.Arg24LeufsTer6
XM_006715542.2:c.-15+80_-15+81insTTCCTGGCAGGGGCTGAGGA	XP_006715605.1:n.-15+80_-15+81insTTCCTGGCAGGGGCTGAGGA
XM_011536023.1:c.70_71insTTCCTGGCAGGGGCTGAGGA	XP_011534325.1:p.Arg24LeufsTer6
XM_011536024.1:c.70_71insTTCCTGGCAGGGGCTGAGGA	XP_011534326.1:p.Arg24LeufsTer6
XM_011536025.1:c.70_71insTTCCTGGCAGGGGCTGAGGA	XP_011534327.1:p.Arg24LeufsTer6
XM_011536027.1:c.70_71insTTCCTGGCAGGGGCTGAGGA	XP_011534329.1:p.Arg24LeufsTer6
NM_000056.4:c.70_71insTTCCTGGCAGGGGCTGAGGA	NP_000047.1:p.Arg24LeufsTer6
NM_001318975.1:c.-15+80_-15+81insTTCCTGGCAGGGGCTGAGGA	NP_001305904.1:n.-15+80_-15+81insTTCCTGGCAGGGGCTGAGGA
NM_183050.3:c.70_71insTTCCTGGCAGGGGCTGAGGA	NP_898871.1:p.Arg24LeufsTer6
NR_134945.1:n.154_155insTTCCTGGCAGGGGCTGAGGA
XM_005248756.5:c.70_71insTTCCTGGCAGGGGCTGAGGA	XP_005248813.1:p.Arg24LeufsTer6
XM_011536023.3:c.70_71insTTCCTGGCAGGGGCTGAGGA	XP_011534325.1:p.Arg24LeufsTer6
XM_011536024.3:c.70_71insTTCCTGGCAGGGGCTGAGGA	XP_011534326.1:p.Arg24LeufsTer6
XM_011536025.3:c.70_71insTTCCTGGCAGGGGCTGAGGA	XP_011534327.1:p.Arg24LeufsTer6
XR_001743546.2:n.100_101insTTCCTGGCAGGGGCTGAGGA
XR_001743547.2:n.100_101insTTCCTGGCAGGGGCTGAGGA
XR_001743548.2:n.100_101insTTCCTGGCAGGGGCTGAGGA
XR_001743549.2:n.100_101insTTCCTGGCAGGGGCTGAGGA
XR_002956292.1:n.100_101insTTCCTGGCAGGGGCTGAGGA
NM_183050.4:c.70_71insTTCCTGGCAGGGGCTGAGGA MANE Select	NP_898871.1:p.Arg24LeufsTer6
NR_134945.2:n.93_94insTTCCTGGCAGGGGCTGAGGA
NM_000056.5:c.70_71insTTCCTGGCAGGGGCTGAGGA	NP_000047.1:p.Arg24LeufsTer6