Canonical Allele Identifier: CA2573156391

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1423652
• ClinVar RCV Id: RCV001954865
• dbSNP Id: rs2122142757

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422180del , CM000681.2:g.41422180del	GRCh38
NC_000019.9:g.41928085del , CM000681.1:g.41928085del	GRCh37
NC_000019.8:g.46619925del	NCBI36
NG_013004.1:g.29392del

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.663del MANE Select	ENSP00000269980.2:p.Tyr221Ter
ENST00000269980.6:c.663del	ENSP00000269980.2:p.Tyr221Ter
ENST00000457836.6:c.597del	ENSP00000416000.2:p.Tyr199Ter
ENST00000535632.5:n.292del
ENST00000538423.5:n.789del
ENST00000540732.3:c.765del	ENSP00000443246.1:p.Tyr255Ter
ENST00000541315.1:c.563del
ENST00000542943.5:c.576del	ENSP00000440345.1:p.Tyr192Ter
ENST00000545787.1:n.291del
ENST00000595085.5:c.663del	ENSP00000471150.2:p.Tyr221Ter
NM_000709.3:c.663del	NP_000700.1:p.Tyr221Ter
NM_001164783.1:c.663del	NP_001158255.1:p.Tyr221Ter
NM_000709.4:c.663del MANE Select	NP_000700.1:p.Tyr221Ter
NM_001164783.2:c.663del	NP_001158255.1:p.Tyr221Ter