Canonical Allele Identifier: CA2573141308

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 1452253
• ClinVar RCV Id: RCV002035507
• dbSNP Id: rs2127698980

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106787del , CM000668.2:g.80106787del	GRCh38
NC_000006.11:g.80816504del , CM000668.1:g.80816504del	GRCh37
NC_000006.10:g.80873223del	NCBI36
NG_009775.1:g.5161del
NG_009775.2:g.5161del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.94del MANE Select	ENSP00000318351.5:p.Ala32ArgfsTer?
ENST00000320393.8:c.94del	ENSP00000318351.5:p.Ala32ArgfsTer?
ENST00000356489.9:c.94del	ENSP00000348880.5:p.Ala32ArgfsTer?
ENST00000369760.8:c.94del	ENSP00000358775.4:p.Ala32ArgfsTer?
NM_000056.3:c.94del	NP_000047.1:p.Ala32ArgfsTer?
NM_183050.2:c.94del	NP_898871.1:p.Ala32ArgfsTer?
XM_005248756.3:c.94del	XP_005248813.1:p.Ala32ArgfsTer?
XM_006715542.2:c.-15+104del	XP_006715605.1:n.-15+104del
XM_011536023.1:c.94del	XP_011534325.1:p.Ala32ArgfsTer?
XM_011536024.1:c.94del	XP_011534326.1:p.Ala32ArgfsTer?
XM_011536025.1:c.94del	XP_011534327.1:p.Ala32ArgfsTer?
XM_011536027.1:c.94del	XP_011534329.1:p.Ala32ArgfsTer?
NM_000056.4:c.94del	NP_000047.1:p.Ala32ArgfsTer?
NM_001318975.1:c.-15+104del	NP_001305904.1:n.-15+104del
NM_183050.3:c.94del	NP_898871.1:p.Ala32ArgfsTer?
NR_134945.1:n.178del
XM_005248756.5:c.94del	XP_005248813.1:p.Ala32ArgfsTer?
XM_011536023.3:c.94del	XP_011534325.1:p.Ala32ArgfsTer?
XM_011536024.3:c.94del	XP_011534326.1:p.Ala32ArgfsTer?
XM_011536025.3:c.94del	XP_011534327.1:p.Ala32ArgfsTer?
XR_001743546.2:n.124del
XR_001743547.2:n.124del
XR_001743548.2:n.124del
XR_001743549.2:n.124del
XR_002956292.1:n.124del
NM_183050.4:c.94del MANE Select	NP_898871.1:p.Ala32ArgfsTer?
NR_134945.2:n.117del
NM_000056.5:c.94del	NP_000047.1:p.Ala32ArgfsTer?