Canonical Allele Identifier: CA2831039048

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410644_41410645insA , CM000681.2:g.41410644_41410645insA	GRCh38
NC_000019.9:g.41916549_41916550insA , CM000681.1:g.41916549_41916550insA	GRCh37
NC_000019.8:g.46608389_46608390insA	NCBI36
NG_013004.1:g.17856_17857insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.116_117insA MANE Select	ENSP00000269980.2:p.Arg40GlnfsTer11
ENST00000269980.6:c.116_117insA	ENSP00000269980.2:p.Arg40GlnfsTer11
ENST00000457836.6:c.58-8_58-7insA	ENSP00000416000.2:n.58-8_58-7insA
ENST00000538423.5:n.136_137insA
ENST00000540732.3:c.218_219insA	ENSP00000443246.1:p.Arg74GlnfsTer11
ENST00000542943.5:c.116_117insA	ENSP00000440345.1:p.Arg40GlnfsTer11
ENST00000595085.5:c.116_117insA	ENSP00000471150.2:p.Arg40GlnfsTer11
ENST00000604424.1:n.358_359insA
NM_000709.3:c.116_117insA	NP_000700.1:p.Arg40GlnfsTer11
NM_001164783.1:c.116_117insA	NP_001158255.1:p.Arg40GlnfsTer11
NM_000709.4:c.116_117insA MANE Select	NP_000700.1:p.Arg40GlnfsTer11
NM_001164783.2:c.116_117insA	NP_001158255.1:p.Arg40GlnfsTer11