Canonical Allele Identifier: CA2336459056

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422312_41422313delinsGA , CM000681.2:g.41422312_41422313delinsGA	GRCh38
NC_000019.9:g.41928217_41928218delinsGA , CM000681.1:g.41928217_41928218delinsGA	GRCh37
NC_000019.8:g.46620057_46620058delinsGA	NCBI36
NG_013004.1:g.29524_29525delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.795_796delinsGA MANE Select	ENSP00000269980.2:p.Arg265=
ENST00000269980.6:c.795_796delinsGA	ENSP00000269980.2:p.Arg265=
ENST00000457836.6:c.729_730delinsGA	ENSP00000416000.2:p.Arg243=
ENST00000535632.5:n.424_425delinsGA
ENST00000540732.3:c.897_898delinsGA	ENSP00000443246.1:p.Arg299=
ENST00000542943.5:c.708_709delinsGA	ENSP00000440345.1:p.Arg236=
ENST00000545787.1:n.423_424delinsGA
ENST00000595085.5:c.795_796delinsGA	ENSP00000471150.2:p.Arg265=
NM_000709.3:c.795_796delinsGA	NP_000700.1:p.Arg265=
NM_001164783.1:c.795_796delinsGA	NP_001158255.1:p.Arg265=
NM_000709.4:c.795_796delinsGA MANE Select	NP_000700.1:p.Arg265=
NM_001164783.2:c.795_796delinsGA	NP_001158255.1:p.Arg265=