Canonical Allele Identifier: CA2336453759

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410647_41410650delinsGGCA , CM000681.2:g.41410647_41410650delinsGGCA	GRCh38
NC_000019.9:g.41916552_41916555delinsGGCA , CM000681.1:g.41916552_41916555delinsGGCA	GRCh37
NC_000019.8:g.46608392_46608395delinsGGCA	NCBI36
NG_013004.1:g.17859_17862delinsGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.119_122delinsGGCA MANE Select	ENSP00000269980.2:p.Arg40=
ENST00000269980.6:c.119_122delinsGGCA	ENSP00000269980.2:p.Arg40=
ENST00000457836.6:c.58-5_58-2delinsGGCA	ENSP00000416000.2:n.58-5_58-2delinsGGCA
ENST00000538423.5:n.139_142delinsGGCA
ENST00000540732.3:c.221_224delinsGGCA	ENSP00000443246.1:p.Arg74=
ENST00000542943.5:c.119_122delinsGGCA	ENSP00000440345.1:p.Arg40=
ENST00000595085.5:c.119_122delinsGGCA	ENSP00000471150.2:p.Arg40=
ENST00000604424.1:n.361_364delinsGGCA
NM_000709.3:c.119_122delinsGGCA	NP_000700.1:p.Arg40=
NM_001164783.1:c.119_122delinsGGCA	NP_001158255.1:p.Arg40=
NM_000709.4:c.119_122delinsGGCA MANE Select	NP_000700.1:p.Arg40=
NM_001164783.2:c.119_122delinsGGCA	NP_001158255.1:p.Arg40=