Canonical Allele Identifier: CA142276837

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 527129
• ClinVar RCV Id: RCV000631886
• dbSNP Id: rs867612284
• gnomAD v2: 6-80816561-GT-G
• gnomAD v3: 6-80106844-GT-G
• gnomAD v4: 6-80106844-GT-G
• MyVariant Identifiers: chr6:g.80816562del (hg19) ; chr6:g.80106845del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106845del , CM000668.2:g.80106845del	GRCh38
NC_000006.11:g.80816562del , CM000668.1:g.80816562del	GRCh37
NC_000006.10:g.80873281del	NCBI36
NG_009775.1:g.5219del
NG_009775.2:g.5219del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.152del MANE Select	ENSP00000318351.5:p.Val51GlyfsTer21
ENST00000320393.8:c.152del	ENSP00000318351.5:p.Val51GlyfsTer21
ENST00000356489.9:c.152del	ENSP00000348880.5:p.Val51GlyfsTer21
ENST00000369760.8:c.152del	ENSP00000358775.4:p.Val51GlyfsTer21
NM_000056.3:c.152del	NP_000047.1:p.Val51GlyfsTer21
NM_183050.2:c.152del	NP_898871.1:p.Val51GlyfsTer21
XM_005248756.3:c.152del	XP_005248813.1:p.Val51GlyfsTer21
XM_006715542.2:c.-15+162del	XP_006715605.1:n.-15+162del
XM_011536023.1:c.152del	XP_011534325.1:p.Val51GlyfsTer21
XM_011536024.1:c.152del	XP_011534326.1:p.Val51GlyfsTer21
XM_011536025.1:c.152del	XP_011534327.1:p.Val51GlyfsTer21
XM_011536027.1:c.152del	XP_011534329.1:p.Val51GlyfsTer21
NM_000056.4:c.152del	NP_000047.1:p.Val51GlyfsTer21
NM_001318975.1:c.-15+162del	NP_001305904.1:n.-15+162del
NM_183050.3:c.152del	NP_898871.1:p.Val51GlyfsTer21
NR_134945.1:n.236del
XM_005248756.5:c.152del	XP_005248813.1:p.Val51GlyfsTer21
XM_011536023.3:c.152del	XP_011534325.1:p.Val51GlyfsTer21
XM_011536024.3:c.152del	XP_011534326.1:p.Val51GlyfsTer21
XM_011536025.3:c.152del	XP_011534327.1:p.Val51GlyfsTer21
XR_001743546.2:n.182del
XR_001743547.2:n.182del
XR_001743548.2:n.182del
XR_001743549.2:n.182del
XR_002956292.1:n.182del
NM_183050.4:c.152del MANE Select	NP_898871.1:p.Val51GlyfsTer21
NR_134945.2:n.175del
NM_000056.5:c.152del	NP_000047.1:p.Val51GlyfsTer21