Canonical Allele Identifier: CA995977380

Gene: BCKDHA

Linked Data

• dbSNP Id: rs2039403952
• gnomAD v3: 19-41424369-C-CT
• gnomAD v4: 19-41424369-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424369_41424370insT , CM000681.2:g.41424369_41424370insT	GRCh38
NC_000019.9:g.41930274_41930275insT , CM000681.1:g.41930274_41930275insT	GRCh37
NC_000019.8:g.46622114_46622115insT	NCBI36
NG_013004.1:g.31581_31582insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1168-69_1168-68insT MANE Select	ENSP00000269980.2:n.1168-69_1168-68insT
ENST00000269980.6:c.1168-69_1168-68insT	ENSP00000269980.2:n.1168-69_1168-68insT
ENST00000457836.6:c.1177-69_1177-68insT	ENSP00000416000.2:n.1177-69_1177-68insT
ENST00000540732.3:c.1270-69_1270-68insT	ENSP00000443246.1:n.1270-69_1270-68insT
ENST00000544905.1:c.62-133_62-132insT
ENST00000595085.5:c.922+1672_922+1673insT	ENSP00000471150.2:n.922+1672_922+1673insT
NM_000709.3:c.1168-69_1168-68insT	NP_000700.1:n.1168-69_1168-68insT
NM_001164783.1:c.1165-69_1165-68insT	NP_001158255.1:n.1165-69_1165-68insT
NM_000709.4:c.1168-69_1168-68insT MANE Select	NP_000700.1:n.1168-69_1168-68insT
NM_001164783.2:c.1165-69_1165-68insT	NP_001158255.1:n.1165-69_1165-68insT