Canonical Allele Identifier: CA2578677817

Gene: BCKDHB

Linked Data

• dbSNP Id: rs2127779312

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80171367del , CM000668.2:g.80171367del	GRCh38
NC_000006.11:g.80881084del , CM000668.1:g.80881084del	GRCh37
NC_000006.10:g.80937803del	NCBI36
NG_009775.1:g.69741del
NG_009775.2:g.69741del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.719del MANE Select	ENSP00000318351.5:p.Pro240LeufsTer14
ENST00000320393.8:c.719del	ENSP00000318351.5:p.Pro240LeufsTer14
ENST00000356489.9:c.719del	ENSP00000348880.5:p.Pro240LeufsTer14
NM_000056.3:c.719del	NP_000047.1:p.Pro240LeufsTer14
NM_183050.2:c.719del	NP_898871.1:p.Pro240LeufsTer14
XM_005248756.3:c.719del	XP_005248813.1:p.Pro240LeufsTer14
XM_006715542.2:c.509del	XP_006715605.1:p.Pro170LeufsTer14
XM_011536023.1:c.719del	XP_011534325.1:p.Pro240LeufsTer14
XM_011536024.1:c.719del	XP_011534326.1:p.Pro240LeufsTer14
XM_011536025.1:c.719del	XP_011534327.1:p.Pro240LeufsTer14
XM_011536026.1:c.509del	XP_011534328.1:p.Pro170LeufsTer14
NM_000056.4:c.719del	NP_000047.1:p.Pro240LeufsTer14
NM_001318975.1:c.509del	NP_001305904.1:p.Pro170LeufsTer14
NM_183050.3:c.719del	NP_898871.1:p.Pro240LeufsTer14
NR_134945.1:n.897del
XM_005248756.5:c.719del	XP_005248813.1:p.Pro240LeufsTer14
XM_011536023.3:c.719del	XP_011534325.1:p.Pro240LeufsTer14
XM_011536024.3:c.719del	XP_011534326.1:p.Pro240LeufsTer14
XM_011536025.3:c.719del	XP_011534327.1:p.Pro240LeufsTer14
XR_001743546.2:n.749del
XR_001743547.2:n.749del
XR_001743548.2:n.749del
XR_001743549.2:n.749del
XR_002956292.1:n.749del
NM_183050.4:c.719del MANE Select	NP_898871.1:p.Pro240LeufsTer14
NR_134945.2:n.836del
NM_000056.5:c.719del	NP_000047.1:p.Pro240LeufsTer14