Canonical Allele Identifier: CA916082890

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 838288
• ClinVar RCV Id: RCV001039804
• dbSNP Id: rs1772747408
• gnomAD v4: 6-80168979-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168980dup , CM000668.2:g.80168980dup	GRCh38
NC_000006.11:g.80878697dup , CM000668.1:g.80878697dup	GRCh37
NC_000006.10:g.80935416dup	NCBI36
NG_009775.1:g.67354dup
NG_009775.2:g.67354dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.583dup MANE Select	ENSP00000318351.5:p.Tyr195LeufsTer7
ENST00000320393.8:c.583dup	ENSP00000318351.5:p.Tyr195LeufsTer7
ENST00000356489.9:c.583dup	ENSP00000348880.5:p.Tyr195LeufsTer7
ENST00000369760.8:c.583dup	ENSP00000358775.4:p.Tyr195LeufsTer7
NM_000056.3:c.583dup	NP_000047.1:p.Tyr195LeufsTer7
NM_183050.2:c.583dup	NP_898871.1:p.Tyr195LeufsTer7
XM_005248756.3:c.583dup	XP_005248813.1:p.Tyr195LeufsTer7
XM_006715542.2:c.373dup	XP_006715605.1:p.Tyr125LeufsTer7
XM_011536023.1:c.583dup	XP_011534325.1:p.Tyr195LeufsTer7
XM_011536024.1:c.583dup	XP_011534326.1:p.Tyr195LeufsTer7
XM_011536025.1:c.583dup	XP_011534327.1:p.Tyr195LeufsTer7
XM_011536026.1:c.373dup	XP_011534328.1:p.Tyr125LeufsTer7
XM_011536027.1:c.583dup	XP_011534329.1:p.Tyr195LeufsTer7
NM_000056.4:c.583dup	NP_000047.1:p.Tyr195LeufsTer7
NM_001318975.1:c.373dup	NP_001305904.1:p.Tyr125LeufsTer7
NM_183050.3:c.583dup	NP_898871.1:p.Tyr195LeufsTer7
NR_134945.1:n.667dup
XM_005248756.5:c.583dup	XP_005248813.1:p.Tyr195LeufsTer7
XM_011536023.3:c.583dup	XP_011534325.1:p.Tyr195LeufsTer7
XM_011536024.3:c.583dup	XP_011534326.1:p.Tyr195LeufsTer7
XM_011536025.3:c.583dup	XP_011534327.1:p.Tyr195LeufsTer7
XR_001743546.2:n.613dup
XR_001743547.2:n.613dup
XR_001743548.2:n.613dup
XR_001743549.2:n.613dup
XR_002956292.1:n.613dup
NM_183050.4:c.583dup MANE Select	NP_898871.1:p.Tyr195LeufsTer7
NR_134945.2:n.606dup
NM_000056.5:c.583dup	NP_000047.1:p.Tyr195LeufsTer7