Canonical Allele Identifier: CA2695198208

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2680127
• ClinVar RCV Id: RCV003465165

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424449_41424450del , CM000681.2:g.41424449_41424450del	GRCh38
NC_000019.9:g.41930354_41930355del , CM000681.1:g.41930354_41930355del	GRCh37
NC_000019.8:g.46622194_46622195del	NCBI36
NG_013004.1:g.31661_31662del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1179_1180del MANE Select	ENSP00000269980.2:p.Phe394Ter
ENST00000269980.6:c.1179_1180del	ENSP00000269980.2:p.Phe394Ter
ENST00000457836.6:c.1188_1189del	ENSP00000416000.2:p.Phe397Ter
ENST00000540732.3:c.1281_1282del	ENSP00000443246.1:p.Phe428Ter
ENST00000544905.1:c.62-53_62-52del
ENST00000595085.5:c.922+1752_922+1753del	ENSP00000471150.2:n.922+1752_922+1753del
NM_000709.3:c.1179_1180del	NP_000700.1:p.Phe394Ter
NM_001164783.1:c.1176_1177del	NP_001158255.1:p.Phe393Ter
NM_000709.4:c.1179_1180del MANE Select	NP_000700.1:p.Phe394Ter
NM_001164783.2:c.1176_1177del	NP_001158255.1:p.Phe393Ter