Canonical Allele Identifier: CA2336454006

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41411088_41411089delinsTC , CM000681.2:g.41411088_41411089delinsTC	GRCh38
NC_000019.9:g.41916993_41916994delinsTC , CM000681.1:g.41916993_41916994delinsTC	GRCh37
NC_000019.8:g.46608833_46608834delinsTC	NCBI36
NG_013004.1:g.18300_18301delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.375+79_375+80delinsTC MANE Select	ENSP00000269980.2:n.375+79_375+80delinsTC
ENST00000269980.6:c.375+79_375+80delinsTC	ENSP00000269980.2:n.375+79_375+80delinsTC
ENST00000457836.6:c.309+79_309+80delinsTC	ENSP00000416000.2:n.309+79_309+80delinsTC
ENST00000538423.5:n.501+79_501+80delinsTC
ENST00000540732.3:c.477+79_477+80delinsTC	ENSP00000443246.1:n.477+79_477+80delinsTC
ENST00000541315.1:c.182+79_182+80delinsTC
ENST00000542943.5:c.288+272_288+273delinsTC	ENSP00000440345.1:n.288+272_288+273delinsTC
ENST00000595085.5:c.375+79_375+80delinsTC	ENSP00000471150.2:n.375+79_375+80delinsTC
NM_000709.3:c.375+79_375+80delinsTC	NP_000700.1:n.375+79_375+80delinsTC
NM_001164783.1:c.375+79_375+80delinsTC	NP_001158255.1:n.375+79_375+80delinsTC
NM_000709.4:c.375+79_375+80delinsTC MANE Select	NP_000700.1:n.375+79_375+80delinsTC
NM_001164783.2:c.375+79_375+80delinsTC	NP_001158255.1:n.375+79_375+80delinsTC