Canonical Allele Identifier: CA2580075912

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 1724904
• ClinVar RCV Id: RCV002307963

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168956_80168957del , CM000668.2:g.80168956_80168957del	GRCh38
NC_000006.11:g.80878673_80878674del , CM000668.1:g.80878673_80878674del	GRCh37
NC_000006.10:g.80935392_80935393del	NCBI36
NG_009775.1:g.67330_67331del
NG_009775.2:g.67330_67331del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.559_560del MANE Select	ENSP00000318351.5:p.Gly187LeufsTer14
ENST00000320393.8:c.559_560del	ENSP00000318351.5:p.Gly187LeufsTer14
ENST00000356489.9:c.559_560del	ENSP00000348880.5:p.Gly187LeufsTer14
ENST00000369760.8:c.559_560del	ENSP00000358775.4:p.Gly187LeufsTer14
NM_000056.3:c.559_560del	NP_000047.1:p.Gly187LeufsTer14
NM_183050.2:c.559_560del	NP_898871.1:p.Gly187LeufsTer14
XM_005248756.3:c.559_560del	XP_005248813.1:p.Gly187LeufsTer14
XM_006715542.2:c.349_350del	XP_006715605.1:p.Gly117LeufsTer14
XM_011536023.1:c.559_560del	XP_011534325.1:p.Gly187LeufsTer14
XM_011536024.1:c.559_560del	XP_011534326.1:p.Gly187LeufsTer14
XM_011536025.1:c.559_560del	XP_011534327.1:p.Gly187LeufsTer14
XM_011536026.1:c.349_350del	XP_011534328.1:p.Gly117LeufsTer14
XM_011536027.1:c.559_560del	XP_011534329.1:p.Gly187LeufsTer14
NM_000056.4:c.559_560del	NP_000047.1:p.Gly187LeufsTer14
NM_001318975.1:c.349_350del	NP_001305904.1:p.Gly117LeufsTer14
NM_183050.3:c.559_560del	NP_898871.1:p.Gly187LeufsTer14
NR_134945.1:n.643_644del
XM_005248756.5:c.559_560del	XP_005248813.1:p.Gly187LeufsTer14
XM_011536023.3:c.559_560del	XP_011534325.1:p.Gly187LeufsTer14
XM_011536024.3:c.559_560del	XP_011534326.1:p.Gly187LeufsTer14
XM_011536025.3:c.559_560del	XP_011534327.1:p.Gly187LeufsTer14
XR_001743546.2:n.589_590del
XR_001743547.2:n.589_590del
XR_001743548.2:n.589_590del
XR_001743549.2:n.589_590del
XR_002956292.1:n.589_590del
NM_183050.4:c.559_560del MANE Select	NP_898871.1:p.Gly187LeufsTer14
NR_134945.2:n.582_583del
NM_000056.5:c.559_560del	NP_000047.1:p.Gly187LeufsTer14