Canonical Allele Identifier: CA2580075911

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 1724915
• ClinVar RCV Id: RCV002307974

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106749_80106750del , CM000668.2:g.80106749_80106750del	GRCh38
NC_000006.11:g.80816466_80816467del , CM000668.1:g.80816466_80816467del	GRCh37
NC_000006.10:g.80873185_80873186del	NCBI36
NG_009775.1:g.5123_5124del
NG_009775.2:g.5123_5124del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.56_57del MANE Select	ENSP00000318351.5:p.Ala19GlyfsTer?
ENST00000320393.8:c.56_57del	ENSP00000318351.5:p.Ala19GlyfsTer?
ENST00000356489.9:c.56_57del	ENSP00000348880.5:p.Ala19GlyfsTer?
ENST00000369760.8:c.56_57del	ENSP00000358775.4:p.Ala19GlyfsTer?
NM_000056.3:c.56_57del	NP_000047.1:p.Ala19GlyfsTer?
NM_183050.2:c.56_57del	NP_898871.1:p.Ala19GlyfsTer?
XM_005248756.3:c.56_57del	XP_005248813.1:p.Ala19GlyfsTer?
XM_006715542.2:c.-15+66_-15+67del	XP_006715605.1:n.-15+66_-15+67del
XM_011536023.1:c.56_57del	XP_011534325.1:p.Ala19GlyfsTer?
XM_011536024.1:c.56_57del	XP_011534326.1:p.Ala19GlyfsTer?
XM_011536025.1:c.56_57del	XP_011534327.1:p.Ala19GlyfsTer?
XM_011536027.1:c.56_57del	XP_011534329.1:p.Ala19GlyfsTer?
NM_000056.4:c.56_57del	NP_000047.1:p.Ala19GlyfsTer?
NM_001318975.1:c.-15+66_-15+67del	NP_001305904.1:n.-15+66_-15+67del
NM_183050.3:c.56_57del	NP_898871.1:p.Ala19GlyfsTer?
NR_134945.1:n.140_141del
XM_005248756.5:c.56_57del	XP_005248813.1:p.Ala19GlyfsTer?
XM_011536023.3:c.56_57del	XP_011534325.1:p.Ala19GlyfsTer?
XM_011536024.3:c.56_57del	XP_011534326.1:p.Ala19GlyfsTer?
XM_011536025.3:c.56_57del	XP_011534327.1:p.Ala19GlyfsTer?
XR_001743546.2:n.86_87del
XR_001743547.2:n.86_87del
XR_001743548.2:n.86_87del
XR_001743549.2:n.86_87del
XR_002956292.1:n.86_87del
NM_183050.4:c.56_57del MANE Select	NP_898871.1:p.Ala19GlyfsTer?
NR_134945.2:n.79_80del
NM_000056.5:c.56_57del	NP_000047.1:p.Ala19GlyfsTer?