Canonical Allele Identifier: CA312364

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 203638
• ClinVar RCV Id: RCV000185796 ; RCV000408793
• dbSNP Id: rs796051938
• gnomAD v4: 19-41422175-GCGTA-G
• MyVariant Identifiers: chr19:g.41928083_41928086del (hg19) ; chr19:g.41422178_41422181del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422178_41422181del , CM000681.2:g.41422178_41422181del	GRCh38
NC_000019.9:g.41928083_41928086del , CM000681.1:g.41928083_41928086del	GRCh37
NC_000019.8:g.46619923_46619926del	NCBI36
NG_013004.1:g.29390_29393del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.661_664del MANE Select	ENSP00000269980.2:p.Tyr221GlnfsTer?
ENST00000269980.6:c.661_664del	ENSP00000269980.2:p.Tyr221GlnfsTer?
ENST00000457836.6:c.595_598del	ENSP00000416000.2:p.Tyr199GlnfsTer?
ENST00000535632.5:n.290_293del
ENST00000538423.5:n.787_790del
ENST00000540732.3:c.763_766del	ENSP00000443246.1:p.Tyr255GlnfsTer?
ENST00000541315.1:c.561_564del
ENST00000542943.5:c.574_577del	ENSP00000440345.1:p.Tyr192GlnfsTer?
ENST00000545787.1:n.289_292del
ENST00000595085.5:c.661_664del	ENSP00000471150.2:p.Tyr221GlnfsTer?
NM_000709.3:c.661_664del	NP_000700.1:p.Tyr221GlnfsTer?
NM_001164783.1:c.661_664del	NP_001158255.1:p.Tyr221GlnfsTer?
NM_000709.4:c.661_664del MANE Select	NP_000700.1:p.Tyr221GlnfsTer?
NM_001164783.2:c.661_664del	NP_001158255.1:p.Tyr221GlnfsTer?