Canonical Allele Identifier: CA1139659711

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 940139
• ClinVar RCV Id: RCV001209665
• dbSNP Id: rs1769085821
• gnomAD v4: 6-80106795-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106800dup , CM000668.2:g.80106800dup	GRCh38
NC_000006.11:g.80816517dup , CM000668.1:g.80816517dup	GRCh37
NC_000006.10:g.80873236dup	NCBI36
NG_009775.1:g.5174dup
NG_009775.2:g.5174dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000320393.9:c.107dup MANE Select	ENSP00000318351.5:p.Leu36PhefsTer?
ENST00000320393.8:c.107dup	ENSP00000318351.5:p.Leu36PhefsTer?
ENST00000356489.9:c.107dup	ENSP00000348880.5:p.Leu36PhefsTer?
ENST00000369760.8:c.107dup	ENSP00000358775.4:p.Leu36PhefsTer?
NM_000056.3:c.107dup	NP_000047.1:p.Leu36PhefsTer?
NM_183050.2:c.107dup	NP_898871.1:p.Leu36PhefsTer?
XM_005248756.3:c.107dup	XP_005248813.1:p.Leu36PhefsTer?
XM_006715542.2:c.-15+117dup	XP_006715605.1:n.-15+117dup
XM_011536023.1:c.107dup	XP_011534325.1:p.Leu36PhefsTer?
XM_011536024.1:c.107dup	XP_011534326.1:p.Leu36PhefsTer?
XM_011536025.1:c.107dup	XP_011534327.1:p.Leu36PhefsTer?
XM_011536027.1:c.107dup	XP_011534329.1:p.Leu36PhefsTer?
NM_000056.4:c.107dup	NP_000047.1:p.Leu36PhefsTer?
NM_001318975.1:c.-15+117dup	NP_001305904.1:n.-15+117dup
NM_183050.3:c.107dup	NP_898871.1:p.Leu36PhefsTer?
NR_134945.1:n.191dup
XM_005248756.5:c.107dup	XP_005248813.1:p.Leu36PhefsTer?
XM_011536023.3:c.107dup	XP_011534325.1:p.Leu36PhefsTer?
XM_011536024.3:c.107dup	XP_011534326.1:p.Leu36PhefsTer?
XM_011536025.3:c.107dup	XP_011534327.1:p.Leu36PhefsTer?
XR_001743546.2:n.137dup
XR_001743547.2:n.137dup
XR_001743548.2:n.137dup
XR_001743549.2:n.137dup
XR_002956292.1:n.137dup
NM_183050.4:c.107dup MANE Select	NP_898871.1:p.Leu36PhefsTer?
NR_134945.2:n.130dup
NM_000056.5:c.107dup	NP_000047.1:p.Leu36PhefsTer?