Canonical Allele Identifier: CA2814427672

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422966dup , CM000681.2:g.41422966dup	GRCh38
NC_000019.9:g.41928871dup , CM000681.1:g.41928871dup	GRCh37
NC_000019.8:g.46620711dup	NCBI36
NG_013004.1:g.30178dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.996-32dup MANE Select	ENSP00000269980.2:n.996-32dup
ENST00000269980.6:c.996-32dup	ENSP00000269980.2:n.996-32dup
ENST00000457836.6:c.973dup	ENSP00000416000.2:p.Thr325AsnfsTer19
ENST00000540732.3:c.1098-32dup	ENSP00000443246.1:n.1098-32dup
ENST00000542943.5:c.909-32dup	ENSP00000440345.1:n.909-32dup
ENST00000595085.5:c.922+269dup	ENSP00000471150.2:n.922+269dup
NM_000709.3:c.996-32dup	NP_000700.1:n.996-32dup
NM_001164783.1:c.993-32dup	NP_001158255.1:n.993-32dup
NM_000709.4:c.996-32dup MANE Select	NP_000700.1:n.996-32dup
NM_001164783.2:c.993-32dup	NP_001158255.1:n.993-32dup