Canonical Allele Identifier: CA16041096
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 370540
ClinVar RCV Id: RCV000411844
dbSNP Id: rs1057516572
MyVariant Identifiers: chr6:g.80881095del (hg19) chr6:g.80171378del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80171378del , CM000668.2:g.80171378del GRCh38
NC_000006.11:g.80881095del , CM000668.1:g.80881095del GRCh37
NC_000006.10:g.80937814del NCBI36
NG_009775.1:g.69752del
NG_009775.2:g.69752del

Transcript Alleles

HGVS Amino-acid change
ENST00000320393.9:c.730del MANE Select ENSP00000318351.5:p.Tyr244ThrfsTer10
ENST00000320393.8:c.730del ENSP00000318351.5:p.Tyr244ThrfsTer10
ENST00000356489.9:c.730del ENSP00000348880.5:p.Tyr244ThrfsTer10
NM_000056.3:c.730del NP_000047.1:p.Tyr244ThrfsTer10
NM_183050.2:c.730del NP_898871.1:p.Tyr244ThrfsTer10
XM_005248756.3:c.730del XP_005248813.1:p.Tyr244ThrfsTer10
XM_006715542.2:c.520del XP_006715605.1:p.Tyr174ThrfsTer10
XM_011536023.1:c.730del XP_011534325.1:p.Tyr244ThrfsTer10
XM_011536024.1:c.730del XP_011534326.1:p.Tyr244ThrfsTer10
XM_011536025.1:c.730del XP_011534327.1:p.Tyr244ThrfsTer10
XM_011536026.1:c.520del XP_011534328.1:p.Tyr174ThrfsTer10
NM_000056.4:c.730del NP_000047.1:p.Tyr244ThrfsTer10
NM_001318975.1:c.520del NP_001305904.1:p.Tyr174ThrfsTer10
NM_183050.3:c.730del NP_898871.1:p.Tyr244ThrfsTer10
NR_134945.1:n.908del
XM_005248756.5:c.730del XP_005248813.1:p.Tyr244ThrfsTer10
XM_011536023.3:c.730del XP_011534325.1:p.Tyr244ThrfsTer10
XM_011536024.3:c.730del XP_011534326.1:p.Tyr244ThrfsTer10
XM_011536025.3:c.730del XP_011534327.1:p.Tyr244ThrfsTer10
XR_001743546.2:n.760del
XR_001743547.2:n.760del
XR_001743548.2:n.760del
XR_001743549.2:n.760del
XR_002956292.1:n.760del
NM_183050.4:c.730del MANE Select NP_898871.1:p.Tyr244ThrfsTer10
NR_134945.2:n.847del
NM_000056.5:c.730del NP_000047.1:p.Tyr244ThrfsTer10
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