Canonical Allele Identifier: CA2336460080

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424578_41424580delinsGCA , CM000681.2:g.41424578_41424580delinsGCA	GRCh38
NC_000019.9:g.41930483_41930485delinsGCA , CM000681.1:g.41930483_41930485delinsGCA	GRCh37
NC_000019.8:g.46622323_46622325delinsGCA	NCBI36
NG_013004.1:g.31790_31792delinsGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1308_1310delinsGCA MANE Select	ENSP00000269980.2:p.Glu436=
ENST00000269980.6:c.1308_1310delinsGCA	ENSP00000269980.2:p.Glu436=
ENST00000457836.6:c.1317_1319delinsGCA	ENSP00000416000.2:p.Glu439=
ENST00000540732.3:c.1410_1412delinsGCA	ENSP00000443246.1:p.Glu470=
ENST00000544905.1:c.138_140delinsGCA
ENST00000595085.5:c.922+1881_922+1883delinsGCA	ENSP00000471150.2:n.922+1881_922+1883delinsGCA
NM_000709.3:c.1308_1310delinsGCA	NP_000700.1:p.Glu436=
NM_001164783.1:c.1305_1307delinsGCA	NP_001158255.1:p.Glu435=
NM_000709.4:c.1308_1310delinsGCA MANE Select	NP_000700.1:p.Glu436=
NM_001164783.2:c.1305_1307delinsGCA	NP_001158255.1:p.Glu435=