Canonical Allele Identifier: CA9460999

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410644_41410645dup , CM000681.2:g.41410644_41410645dup	GRCh38
NC_000019.9:g.41916549_41916550dup , CM000681.1:g.41916549_41916550dup	GRCh37
NC_000019.8:g.46608389_46608390dup	NCBI36
NG_013004.1:g.17856_17857dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.116_117dup MANE Select	NP_000700.1:p.Arg40ProfsTer24
ENST00000269980.7:c.116_117dup MANE Select	ENSP00000269980.2:p.Arg40ProfsTer24
NM_000709.3:c.116_117dup	NP_000700.1:p.Arg40ProfsTer24
NM_001164783.1:c.116_117dup	NP_001158255.1:p.Arg40ProfsTer24
NM_001164783.2:c.116_117dup	NP_001158255.1:p.Arg40ProfsTer24
ENST00000269980.6:c.116_117dup	ENSP00000269980.2:p.Arg40ProfsTer24
ENST00000457836.6:c.58-8_58-7dup	ENSP00000416000.2:n.58-8_58-7dup
ENST00000538423.5:n.136_137dup
ENST00000540732.3:c.218_219dup	ENSP00000443246.1:p.Arg74ProfsTer24
ENST00000542943.5:c.116_117dup	ENSP00000440345.1:p.Arg40ProfsTer24
ENST00000595085.5:c.116_117dup	ENSP00000471150.2:p.Arg40ProfsTer24
ENST00000604424.1:n.358_359dup