Canonical Allele Identifier: CA2336459340

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422912_41422913delinsTC , CM000681.2:g.41422912_41422913delinsTC	GRCh38
NC_000019.9:g.41928817_41928818delinsTC , CM000681.1:g.41928817_41928818delinsTC	GRCh37
NC_000019.8:g.46620657_46620658delinsTC	NCBI36
NG_013004.1:g.30124_30125delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.996-86_996-85delinsTC MANE Select	ENSP00000269980.2:n.996-86_996-85delinsTC
ENST00000269980.6:c.996-86_996-85delinsTC	ENSP00000269980.2:n.996-86_996-85delinsTC
ENST00000457836.6:c.930-11_930-10delinsTC	ENSP00000416000.2:n.930-11_930-10delinsTC
ENST00000540732.3:c.1098-86_1098-85delinsTC	ENSP00000443246.1:n.1098-86_1098-85delinsTC
ENST00000542943.5:c.909-86_909-85delinsTC	ENSP00000440345.1:n.909-86_909-85delinsTC
ENST00000595085.5:c.922+215_922+216delinsTC	ENSP00000471150.2:n.922+215_922+216delinsTC
NM_000709.3:c.996-86_996-85delinsTC	NP_000700.1:n.996-86_996-85delinsTC
NM_001164783.1:c.993-86_993-85delinsTC	NP_001158255.1:n.993-86_993-85delinsTC
NM_000709.4:c.996-86_996-85delinsTC MANE Select	NP_000700.1:n.996-86_996-85delinsTC
NM_001164783.2:c.993-86_993-85delinsTC	NP_001158255.1:n.993-86_993-85delinsTC