Canonical Allele Identifier: CA406013062

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41422353del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422353del , CM000681.2:g.41422353del	GRCh38
NC_000019.9:g.41928258del , CM000681.1:g.41928258del	GRCh37
NC_000019.8:g.46620098del	NCBI36
NG_013004.1:g.29565del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.836del MANE Select	ENSP00000269980.2:p.Tyr279PhefsTer?
ENST00000269980.6:c.836del	ENSP00000269980.2:p.Tyr279PhefsTer?
ENST00000457836.6:c.770del	ENSP00000416000.2:p.Tyr257PhefsTer?
ENST00000535632.5:n.465del
ENST00000540732.3:c.938del	ENSP00000443246.1:p.Tyr313PhefsTer?
ENST00000542943.5:c.749del	ENSP00000440345.1:p.Tyr250PhefsTer?
ENST00000545787.1:n.464del
ENST00000595085.5:c.836del	ENSP00000471150.2:p.Tyr279PhefsTer?
NM_000709.3:c.836del	NP_000700.1:p.Tyr279PhefsTer?
NM_001164783.1:c.836del	NP_001158255.1:p.Tyr279PhefsTer?
NM_000709.4:c.836del MANE Select	NP_000700.1:p.Tyr279PhefsTer?
NM_001164783.2:c.836del	NP_001158255.1:p.Tyr279PhefsTer?