Canonical Allele Identifier: CA2558586285

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422948_41422949insATGGGCTACAAAGTAACCGTACTCGAT , CM000681.2:g.41422948_41422949insATGGGCTACAAAGTAACCGTACTCGAT	GRCh38
NC_000019.9:g.41928853_41928854insATGGGCTACAAAGTAACCGTACTCGAT , CM000681.1:g.41928853_41928854insATGGGCTACAAAGTAACCGTACTCGAT	GRCh37
NC_000019.8:g.46620693_46620694insATGGGCTACAAAGTAACCGTACTCGAT	NCBI36
NG_013004.1:g.30160_30161insATGGGCTACAAAGTAACCGTACTCGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.996-50_996-49insATGGGCTACAAAGTAACCGTACTCGAT MANE Select	ENSP00000269980.2:n.996-50_996-49insATGGGCTACAAAGTAACCGTACTCG...
ENST00000269980.6:c.996-50_996-49insATGGGCTACAAAGTAACCGTACTCGAT	ENSP00000269980.2:n.996-50_996-49insATGGGCTACAAAGTAACCGTACTCG...
ENST00000457836.6:c.955_956insATGGGCTACAAAGTAACCGTACTCGAT	ENSP00000416000.2:p.Pro319delinsHisGlyLeuGlnSerAsnArgThrArgSe...
ENST00000540732.3:c.1098-50_1098-49insATGGGCTACAAAGTAACCGTACTCGAT	ENSP00000443246.1:n.1098-50_1098-49insATGGGCTACAAAGTAACCGTACT...
ENST00000542943.5:c.909-50_909-49insATGGGCTACAAAGTAACCGTACTCGAT	ENSP00000440345.1:n.909-50_909-49insATGGGCTACAAAGTAACCGTACTCG...
ENST00000595085.5:c.922+251_922+252insATGGGCTACAAAGTAACCGTACTCGAT	ENSP00000471150.2:n.922+251_922+252insATGGGCTACAAAGTAACCGTACT...
NM_000709.3:c.996-50_996-49insATGGGCTACAAAGTAACCGTACTCGAT	NP_000700.1:n.996-50_996-49insATGGGCTACAAAGTAACCGTACTCGAT
NM_001164783.1:c.993-50_993-49insATGGGCTACAAAGTAACCGTACTCGAT	NP_001158255.1:n.993-50_993-49insATGGGCTACAAAGTAACCGTACTCGAT
NM_000709.4:c.996-50_996-49insATGGGCTACAAAGTAACCGTACTCGAT MANE Select	NP_000700.1:n.996-50_996-49insATGGGCTACAAAGTAACCGTACTCGAT
NM_001164783.2:c.993-50_993-49insATGGGCTACAAAGTAACCGTACTCGAT	NP_001158255.1:n.993-50_993-49insATGGGCTACAAAGTAACCGTACTCGAT