Canonical Allele Identifier: CA16041094
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 371618
ClinVar RCV Id: RCV000411913
dbSNP Id: rs1057517414

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80106832_80106842del , CM000668.2:g.80106832_80106842del GRCh38
NC_000006.11:g.80816549_80816559del , CM000668.1:g.80816549_80816559del GRCh37
NC_000006.10:g.80873268_80873278del NCBI36
NG_009775.1:g.5206_5216del
NG_009775.2:g.5206_5216del

Transcript Alleles

HGVS Amino-acid change
ENST00000320393.9:c.139_149del MANE Select ENSP00000318351.5:p.Gln47GlyfsTer?
ENST00000320393.8:c.139_149del ENSP00000318351.5:p.Gln47GlyfsTer?
ENST00000356489.9:c.139_149del ENSP00000348880.5:p.Gln47GlyfsTer?
ENST00000369760.8:c.139_149del ENSP00000358775.4:p.Gln47GlyfsTer?
NM_000056.3:c.139_149del NP_000047.1:p.Gln47GlyfsTer?
NM_183050.2:c.139_149del NP_898871.1:p.Gln47GlyfsTer?
XM_005248756.3:c.139_149del XP_005248813.1:p.Gln47GlyfsTer?
XM_006715542.2:c.-15+149_-15+159del XP_006715605.1:n.-15+149_-15+159del
XM_011536023.1:c.139_149del XP_011534325.1:p.Gln47GlyfsTer?
XM_011536024.1:c.139_149del XP_011534326.1:p.Gln47GlyfsTer?
XM_011536025.1:c.139_149del XP_011534327.1:p.Gln47GlyfsTer?
XM_011536027.1:c.139_149del XP_011534329.1:p.Gln47GlyfsTer?
NM_000056.4:c.139_149del NP_000047.1:p.Gln47GlyfsTer?
NM_001318975.1:c.-15+149_-15+159del NP_001305904.1:n.-15+149_-15+159del
NM_183050.3:c.139_149del NP_898871.1:p.Gln47GlyfsTer?
NR_134945.1:n.223_233del
XM_005248756.5:c.139_149del XP_005248813.1:p.Gln47GlyfsTer?
XM_011536023.3:c.139_149del XP_011534325.1:p.Gln47GlyfsTer?
XM_011536024.3:c.139_149del XP_011534326.1:p.Gln47GlyfsTer?
XM_011536025.3:c.139_149del XP_011534327.1:p.Gln47GlyfsTer?
XR_001743546.2:n.169_179del
XR_001743547.2:n.169_179del
XR_001743548.2:n.169_179del
XR_001743549.2:n.169_179del
XR_002956292.1:n.169_179del
NM_183050.4:c.139_149del MANE Select NP_898871.1:p.Gln47GlyfsTer?
NR_134945.2:n.162_172del
NM_000056.5:c.139_149del NP_000047.1:p.Gln47GlyfsTer?