Canonical Allele Identifier: CA2336458982

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422175_41422179delinsGCGTA , CM000681.2:g.41422175_41422179delinsGCGTA	GRCh38
NC_000019.9:g.41928080_41928084delinsGCGTA , CM000681.1:g.41928080_41928084delinsGCGTA	GRCh37
NC_000019.8:g.46619920_46619924delinsGCGTA	NCBI36
NG_013004.1:g.29387_29391delinsGCGTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.658_662delinsGCGTA MANE Select	ENSP00000269980.2:p.Ala220=
ENST00000269980.6:c.658_662delinsGCGTA	ENSP00000269980.2:p.Ala220=
ENST00000457836.6:c.592_596delinsGCGTA	ENSP00000416000.2:p.Ala198=
ENST00000535632.5:n.287_291delinsGCGTA
ENST00000538423.5:n.784_788delinsGCGTA
ENST00000540732.3:c.760_764delinsGCGTA	ENSP00000443246.1:p.Ala254=
ENST00000541315.1:c.558_562delinsGCGTA
ENST00000542943.5:c.571_575delinsGCGTA	ENSP00000440345.1:p.Ala191=
ENST00000545787.1:n.286_290delinsGCGTA
ENST00000595085.5:c.658_662delinsGCGTA	ENSP00000471150.2:p.Ala220=
NM_000709.3:c.658_662delinsGCGTA	NP_000700.1:p.Ala220=
NM_001164783.1:c.658_662delinsGCGTA	NP_001158255.1:p.Ala220=
NM_000709.4:c.658_662delinsGCGTA MANE Select	NP_000700.1:p.Ala220=
NM_001164783.2:c.658_662delinsGCGTA	NP_001158255.1:p.Ala220=