Canonical Allele Identifier: CA645293871
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 225303
ClinVar RCV Id: RCV000490444
dbSNP Id: rs1085307058

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80167702del , CM000668.2:g.80167702del GRCh38
NC_000006.11:g.80877419del , CM000668.1:g.80877419del GRCh37
NC_000006.10:g.80934138del NCBI36
NG_009775.1:g.66076del
NG_009775.2:g.66076del

Transcript Alleles

HGVS Amino-acid change
ENST00000320393.9:c.368del MANE Select ENSP00000318351.5:p.Pro123HisfsTer?
ENST00000320393.8:c.368del ENSP00000318351.5:p.Pro123HisfsTer?
ENST00000356489.9:c.368del ENSP00000348880.5:p.Pro123HisfsTer?
ENST00000369760.8:c.368del ENSP00000358775.4:p.Pro123HisfsTer?
NM_000056.3:c.368del NP_000047.1:p.Pro123HisfsTer?
NM_183050.2:c.368del NP_898871.1:p.Pro123HisfsTer?
XM_005248756.3:c.368del XP_005248813.1:p.Pro123HisfsTer?
XM_006715542.2:c.158del XP_006715605.1:p.Pro53HisfsTer?
XM_011536023.1:c.368del XP_011534325.1:p.Pro123HisfsTer?
XM_011536024.1:c.368del XP_011534326.1:p.Pro123HisfsTer?
XM_011536025.1:c.368del XP_011534327.1:p.Pro123HisfsTer?
XM_011536026.1:c.158del XP_011534328.1:p.Pro53HisfsTer?
XM_011536027.1:c.368del XP_011534329.1:p.Pro123HisfsTer?
NM_000056.4:c.368del NP_000047.1:p.Pro123HisfsTer?
NM_001318975.1:c.158del NP_001305904.1:p.Pro53HisfsTer?
NM_183050.3:c.368del NP_898871.1:p.Pro123HisfsTer?
NR_134945.1:n.452del
XM_005248756.5:c.368del XP_005248813.1:p.Pro123HisfsTer?
XM_011536023.3:c.368del XP_011534325.1:p.Pro123HisfsTer?
XM_011536024.3:c.368del XP_011534326.1:p.Pro123HisfsTer?
XM_011536025.3:c.368del XP_011534327.1:p.Pro123HisfsTer?
XR_001743546.2:n.398del
XR_001743547.2:n.398del
XR_001743548.2:n.398del
XR_001743549.2:n.398del
XR_002956292.1:n.398del
NM_183050.4:c.368del MANE Select NP_898871.1:p.Pro123HisfsTer?
NR_134945.2:n.391del
NM_000056.5:c.368del NP_000047.1:p.Pro123HisfsTer?