Canonical Allele Identifier: CA224325

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 96599
• ClinVar RCV Id: RCV000179041 ; RCV000780959 ; RCV000790691
• dbSNP Id: rs398124587
• ExAC: 6:80878706 CAG / C
• gnomAD v2: 6-80878706-CAG-C
• gnomAD v3: 6-80168989-CAG-C
• gnomAD v4: 6-80168989-CAG-C
• MyVariant Identifiers: chr6:g.80878709_80878710del (hg19) ; chr6:g.80878707_80878708del (hg19) ; chr6:g.80878709_80878710delAG (hg19) ; chr6:g.80168992_80168993del (hg38) ; chr6:g.80168991_80168992del (hg38) ; chr6:g.80168990_80168991del (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168992_80168993del , CM000668.2:g.80168992_80168993del	GRCh38
NC_000006.11:g.80878709_80878710del , CM000668.1:g.80878709_80878710del	GRCh37
NC_000006.10:g.80935428_80935429del	NCBI36
NG_009775.1:g.67366_67367del
NG_009775.2:g.67366_67367del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.595_596del MANE Select	ENSP00000318351.5:p.Pro200Ter
ENST00000320393.8:c.595_596del	ENSP00000318351.5:p.Pro200Ter
ENST00000356489.9:c.595_596del	ENSP00000348880.5:p.Pro200Ter
ENST00000369760.8:c.595_596del	ENSP00000358775.4:p.Pro200Ter
NM_000056.3:c.595_596del	NP_000047.1:p.Pro200Ter
NM_183050.2:c.595_596del	NP_898871.1:p.Pro200Ter
XM_005248756.3:c.595_596del	XP_005248813.1:p.Pro200Ter
XM_006715542.2:c.385_386del	XP_006715605.1:p.Pro130Ter
XM_011536023.1:c.595_596del	XP_011534325.1:p.Pro200Ter
XM_011536024.1:c.595_596del	XP_011534326.1:p.Pro200Ter
XM_011536025.1:c.595_596del	XP_011534327.1:p.Pro200Ter
XM_011536026.1:c.385_386del	XP_011534328.1:p.Pro130Ter
XM_011536027.1:c.595_596del	XP_011534329.1:p.Pro200Ter
NM_000056.4:c.595_596del	NP_000047.1:p.Pro200Ter
NM_001318975.1:c.385_386del	NP_001305904.1:p.Pro130Ter
NM_183050.3:c.595_596del	NP_898871.1:p.Pro200Ter
NR_134945.1:n.679_680del
XM_005248756.5:c.595_596del	XP_005248813.1:p.Pro200Ter
XM_011536023.3:c.595_596del	XP_011534325.1:p.Pro200Ter
XM_011536024.3:c.595_596del	XP_011534326.1:p.Pro200Ter
XM_011536025.3:c.595_596del	XP_011534327.1:p.Pro200Ter
XR_001743546.2:n.625_626del
XR_001743547.2:n.625_626del
XR_001743548.2:n.625_626del
XR_001743549.2:n.625_626del
XR_002956292.1:n.625_626del
NM_183050.4:c.595_596del MANE Select	NP_898871.1:p.Pro200Ter
NR_134945.2:n.618_619del
NM_000056.5:c.595_596del	NP_000047.1:p.Pro200Ter