Canonical Allele Identifier: CA16041091
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 370805
ClinVar RCV Id: RCV000411585
dbSNP Id: rs1057516781
MyVariant Identifiers: chr6:g.80816428_80816437del (hg19) chr6:g.80106711_80106720del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80106711_80106720del , CM000668.2:g.80106711_80106720del GRCh38
NC_000006.11:g.80816428_80816437del , CM000668.1:g.80816428_80816437del GRCh37
NC_000006.10:g.80873147_80873156del NCBI36
NG_009775.1:g.5085_5094del
NG_009775.2:g.5085_5094del

Transcript Alleles

HGVS Amino-acid change
ENST00000320393.9:c.18_27del MANE Select ENSP00000318351.5:p.Ala7GlyfsTer?
ENST00000320393.8:c.18_27del ENSP00000318351.5:p.Ala7GlyfsTer?
ENST00000356489.9:c.18_27del ENSP00000348880.5:p.Ala7GlyfsTer?
ENST00000369760.8:c.18_27del ENSP00000358775.4:p.Ala7GlyfsTer?
NM_000056.3:c.18_27del NP_000047.1:p.Ala7GlyfsTer?
NM_183050.2:c.18_27del NP_898871.1:p.Ala7GlyfsTer?
XM_005248756.3:c.18_27del XP_005248813.1:p.Ala7GlyfsTer?
XM_006715542.2:c.-15+28_-15+37del XP_006715605.1:n.-15+28_-15+37del
XM_011536023.1:c.18_27del XP_011534325.1:p.Ala7GlyfsTer?
XM_011536024.1:c.18_27del XP_011534326.1:p.Ala7GlyfsTer?
XM_011536025.1:c.18_27del XP_011534327.1:p.Ala7GlyfsTer?
XM_011536027.1:c.18_27del XP_011534329.1:p.Ala7GlyfsTer?
NM_000056.4:c.18_27del NP_000047.1:p.Ala7GlyfsTer?
NM_001318975.1:c.-15+28_-15+37del NP_001305904.1:n.-15+28_-15+37del
NM_183050.3:c.18_27del NP_898871.1:p.Ala7GlyfsTer?
NR_134945.1:n.102_111del
XM_005248756.5:c.18_27del XP_005248813.1:p.Ala7GlyfsTer?
XM_011536023.3:c.18_27del XP_011534325.1:p.Ala7GlyfsTer?
XM_011536024.3:c.18_27del XP_011534326.1:p.Ala7GlyfsTer?
XM_011536025.3:c.18_27del XP_011534327.1:p.Ala7GlyfsTer?
XR_001743546.2:n.48_57del
XR_001743547.2:n.48_57del
XR_001743548.2:n.48_57del
XR_001743549.2:n.48_57del
XR_002956292.1:n.48_57del
NM_183050.4:c.18_27del MANE Select NP_898871.1:p.Ala7GlyfsTer?
NR_134945.2:n.41_50del
NM_000056.5:c.18_27del NP_000047.1:p.Ala7GlyfsTer?
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