Canonical Allele Identifier: CA2580075914

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 1725761
• ClinVar RCV Id: RCV002309445

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106856_80106857del , CM000668.2:g.80106856_80106857del	GRCh38
NC_000006.11:g.80816573_80816574del , CM000668.1:g.80816573_80816574del	GRCh37
NC_000006.10:g.80873292_80873293del	NCBI36
NG_009775.1:g.5230_5231del
NG_009775.2:g.5230_5231del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.163_164del MANE Select	ENSP00000318351.5:p.Thr55PhefsTer28
ENST00000320393.8:c.163_164del	ENSP00000318351.5:p.Thr55PhefsTer28
ENST00000356489.9:c.163_164del	ENSP00000348880.5:p.Thr55PhefsTer28
ENST00000369760.8:c.163_164del	ENSP00000358775.4:p.Thr55PhefsTer28
NM_000056.3:c.163_164del	NP_000047.1:p.Thr55PhefsTer28
NM_183050.2:c.163_164del	NP_898871.1:p.Thr55PhefsTer28
XM_005248756.3:c.163_164del	XP_005248813.1:p.Thr55PhefsTer28
XM_006715542.2:c.-15+173_-15+174del	XP_006715605.1:n.-15+173_-15+174del
XM_011536023.1:c.163_164del	XP_011534325.1:p.Thr55PhefsTer28
XM_011536024.1:c.163_164del	XP_011534326.1:p.Thr55PhefsTer28
XM_011536025.1:c.163_164del	XP_011534327.1:p.Thr55PhefsTer28
XM_011536027.1:c.163_164del	XP_011534329.1:p.Thr55PhefsTer28
NM_000056.4:c.163_164del	NP_000047.1:p.Thr55PhefsTer28
NM_001318975.1:c.-15+173_-15+174del	NP_001305904.1:n.-15+173_-15+174del
NM_183050.3:c.163_164del	NP_898871.1:p.Thr55PhefsTer28
NR_134945.1:n.247_248del
XM_005248756.5:c.163_164del	XP_005248813.1:p.Thr55PhefsTer28
XM_011536023.3:c.163_164del	XP_011534325.1:p.Thr55PhefsTer28
XM_011536024.3:c.163_164del	XP_011534326.1:p.Thr55PhefsTer28
XM_011536025.3:c.163_164del	XP_011534327.1:p.Thr55PhefsTer28
XR_001743546.2:n.193_194del
XR_001743547.2:n.193_194del
XR_001743548.2:n.193_194del
XR_001743549.2:n.193_194del
XR_002956292.1:n.193_194del
NM_183050.4:c.163_164del MANE Select	NP_898871.1:p.Thr55PhefsTer28
NR_134945.2:n.186_187del
NM_000056.5:c.163_164del	NP_000047.1:p.Thr55PhefsTer28