Canonical Allele Identifier: CA658820648

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 2680131
• ClinVar RCV Id: RCV003465169
• dbSNP Id: rs1235461740
• MyVariant Identifiers: chr6:g.80878664del (hg19) ; chr6:g.80168947del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168947del , CM000668.2:g.80168947del	GRCh38
NC_000006.11:g.80878664del , CM000668.1:g.80878664del	GRCh37
NC_000006.10:g.80935383del	NCBI36
NG_009775.1:g.67321del
NG_009775.2:g.67321del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.550del MANE Select	ENSP00000318351.5:p.Ser184ProfsTer?
ENST00000320393.8:c.550del	ENSP00000318351.5:p.Ser184ProfsTer?
ENST00000356489.9:c.550del	ENSP00000348880.5:p.Ser184ProfsTer?
ENST00000369760.8:c.550del	ENSP00000358775.4:p.Ser184ProfsTer?
NM_000056.3:c.550del	NP_000047.1:p.Ser184ProfsTer?
NM_183050.2:c.550del	NP_898871.1:p.Ser184ProfsTer?
XM_005248756.3:c.550del	XP_005248813.1:p.Ser184ProfsTer?
XM_006715542.2:c.340del	XP_006715605.1:p.Ser114ProfsTer?
XM_011536023.1:c.550del	XP_011534325.1:p.Ser184ProfsTer?
XM_011536024.1:c.550del	XP_011534326.1:p.Ser184ProfsTer?
XM_011536025.1:c.550del	XP_011534327.1:p.Ser184ProfsTer?
XM_011536026.1:c.340del	XP_011534328.1:p.Ser114ProfsTer?
XM_011536027.1:c.550del	XP_011534329.1:p.Ser184ProfsTer?
NM_000056.4:c.550del	NP_000047.1:p.Ser184ProfsTer?
NM_001318975.1:c.340del	NP_001305904.1:p.Ser114ProfsTer?
NM_183050.3:c.550del	NP_898871.1:p.Ser184ProfsTer?
NR_134945.1:n.634del
XM_005248756.5:c.550del	XP_005248813.1:p.Ser184ProfsTer?
XM_011536023.3:c.550del	XP_011534325.1:p.Ser184ProfsTer?
XM_011536024.3:c.550del	XP_011534326.1:p.Ser184ProfsTer?
XM_011536025.3:c.550del	XP_011534327.1:p.Ser184ProfsTer?
XR_001743546.2:n.580del
XR_001743547.2:n.580del
XR_001743548.2:n.580del
XR_001743549.2:n.580del
XR_002956292.1:n.580del
NM_183050.4:c.550del MANE Select	NP_898871.1:p.Ser184ProfsTer?
NR_134945.2:n.573del
NM_000056.5:c.550del	NP_000047.1:p.Ser184ProfsTer?