Canonical Allele Identifier: CA2336460065

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424534_41424537delinsAAGC , CM000681.2:g.41424534_41424537delinsAAGC	GRCh38
NC_000019.9:g.41930439_41930442delinsAAGC , CM000681.1:g.41930439_41930442delinsAAGC	GRCh37
NC_000019.8:g.46622279_46622282delinsAAGC	NCBI36
NG_013004.1:g.31746_31749delinsAAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1264_1267delinsAAGC MANE Select	ENSP00000269980.2:p.Lys422=
ENST00000269980.6:c.1264_1267delinsAAGC	ENSP00000269980.2:p.Lys422=
ENST00000457836.6:c.1273_1276delinsAAGC	ENSP00000416000.2:p.Lys425=
ENST00000540732.3:c.1366_1369delinsAAGC	ENSP00000443246.1:p.Lys456=
ENST00000544905.1:c.94_97delinsAAGC
ENST00000595085.5:c.922+1837_922+1840delinsAAGC	ENSP00000471150.2:n.922+1837_922+1840delinsAAGC
NM_000709.3:c.1264_1267delinsAAGC	NP_000700.1:p.Lys422=
NM_001164783.1:c.1261_1264delinsAAGC	NP_001158255.1:p.Lys421=
NM_000709.4:c.1264_1267delinsAAGC MANE Select	NP_000700.1:p.Lys422=
NM_001164783.2:c.1261_1264delinsAAGC	NP_001158255.1:p.Lys421=