Canonical Allele Identifier: CA2336453799

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410735_41410736delinsGC , CM000681.2:g.41410735_41410736delinsGC	GRCh38
NC_000019.9:g.41916640_41916641delinsGC , CM000681.1:g.41916640_41916641delinsGC	GRCh37
NC_000019.8:g.46608480_46608481delinsGC	NCBI36
NG_013004.1:g.17947_17948delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.207_208delinsGC MANE Select	ENSP00000269980.2:p.Gln69=
ENST00000269980.6:c.207_208delinsGC	ENSP00000269980.2:p.Gln69=
ENST00000457836.6:c.141_142delinsGC	ENSP00000416000.2:p.Gln47=
ENST00000538423.5:n.227_228delinsGC
ENST00000540732.3:c.309_310delinsGC	ENSP00000443246.1:p.Gln103=
ENST00000541315.1:c.14_15delinsGC
ENST00000542943.5:c.207_208delinsGC	ENSP00000440345.1:p.Gln69=
ENST00000595085.5:c.207_208delinsGC	ENSP00000471150.2:p.Gln69=
ENST00000604424.1:n.449_450delinsGC
NM_000709.3:c.207_208delinsGC	NP_000700.1:p.Gln69=
NM_001164783.1:c.207_208delinsGC	NP_001158255.1:p.Gln69=
NM_000709.4:c.207_208delinsGC MANE Select	NP_000700.1:p.Gln69=
NM_001164783.2:c.207_208delinsGC	NP_001158255.1:p.Gln69=