Canonical Allele Identifier: CA2735929923

Gene: BCKDHA

Linked Data

• dbSNP Id: rs2122142849

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422195del , CM000681.2:g.41422195del	GRCh38
NC_000019.9:g.41928100del , CM000681.1:g.41928100del	GRCh37
NC_000019.8:g.46619940del	NCBI36
NG_013004.1:g.29407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.678del MANE Select	ENSP00000269980.2:p.Asn227MetfsTer?
ENST00000269980.6:c.678del	ENSP00000269980.2:p.Asn227MetfsTer?
ENST00000457836.6:c.612del	ENSP00000416000.2:p.Asn205MetfsTer?
ENST00000535632.5:n.307del
ENST00000538423.5:n.804del
ENST00000540732.3:c.780del	ENSP00000443246.1:p.Asn261MetfsTer?
ENST00000541315.1:c.578del
ENST00000542943.5:c.591del	ENSP00000440345.1:p.Asn198MetfsTer?
ENST00000545787.1:n.306del
ENST00000595085.5:c.678del	ENSP00000471150.2:p.Asn227MetfsTer?
NM_000709.3:c.678del	NP_000700.1:p.Asn227MetfsTer?
NM_001164783.1:c.678del	NP_001158255.1:p.Asn227MetfsTer?
NM_000709.4:c.678del MANE Select	NP_000700.1:p.Asn227MetfsTer?
NM_001164783.2:c.678del	NP_001158255.1:p.Asn227MetfsTer?