Canonical Allele Identifier: CA568406720

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 1072640
• ClinVar RCV Id: RCV001385404
• dbSNP Id: rs1562102740
• gnomAD v2: 6-80877444-AT-A
• gnomAD v4: 6-80167727-AT-A
• MyVariant Identifiers: chr6:g.80877445del (hg19) ; chr6:g.80167728del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80167730del , CM000668.2:g.80167730del	GRCh38
NC_000006.11:g.80877447del , CM000668.1:g.80877447del	GRCh37
NC_000006.10:g.80934166del	NCBI36
NG_009775.1:g.66104del
NG_009775.2:g.66104del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.396del MANE Select	ENSP00000318351.5:p.Phe132LeufsTer?
ENST00000320393.8:c.396del	ENSP00000318351.5:p.Phe132LeufsTer?
ENST00000356489.9:c.396del	ENSP00000348880.5:p.Phe132LeufsTer?
ENST00000369760.8:c.396del	ENSP00000358775.4:p.Phe132LeufsTer?
NM_000056.3:c.396del	NP_000047.1:p.Phe132LeufsTer?
NM_183050.2:c.396del	NP_898871.1:p.Phe132LeufsTer?
XM_005248756.3:c.396del	XP_005248813.1:p.Phe132LeufsTer?
XM_006715542.2:c.186del	XP_006715605.1:p.Phe62LeufsTer?
XM_011536023.1:c.396del	XP_011534325.1:p.Phe132LeufsTer?
XM_011536024.1:c.396del	XP_011534326.1:p.Phe132LeufsTer?
XM_011536025.1:c.396del	XP_011534327.1:p.Phe132LeufsTer?
XM_011536026.1:c.186del	XP_011534328.1:p.Phe62LeufsTer?
XM_011536027.1:c.396del	XP_011534329.1:p.Phe132LeufsTer?
NM_000056.4:c.396del	NP_000047.1:p.Phe132LeufsTer?
NM_001318975.1:c.186del	NP_001305904.1:p.Phe62LeufsTer?
NM_183050.3:c.396del	NP_898871.1:p.Phe132LeufsTer?
NR_134945.1:n.480del
XM_005248756.5:c.396del	XP_005248813.1:p.Phe132LeufsTer?
XM_011536023.3:c.396del	XP_011534325.1:p.Phe132LeufsTer?
XM_011536024.3:c.396del	XP_011534326.1:p.Phe132LeufsTer?
XM_011536025.3:c.396del	XP_011534327.1:p.Phe132LeufsTer?
XR_001743546.2:n.426del
XR_001743547.2:n.426del
XR_001743548.2:n.426del
XR_001743549.2:n.426del
XR_002956292.1:n.426del
NM_183050.4:c.396del MANE Select	NP_898871.1:p.Phe132LeufsTer?
NR_134945.2:n.419del
NM_000056.5:c.396del	NP_000047.1:p.Phe132LeufsTer?