Canonical Allele Identifier: CA2739276837

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2788599
• ClinVar RCV Id: RCV003636220

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422615_41422616del , CM000681.2:g.41422615_41422616del	GRCh38
NC_000019.9:g.41928520_41928521del , CM000681.1:g.41928520_41928521del	GRCh37
NC_000019.8:g.46620360_46620361del	NCBI36
NG_013004.1:g.29827_29828del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.854-14_854-13del MANE Select	ENSP00000269980.2:n.854-14_854-13del
ENST00000269980.6:c.854-14_854-13del	ENSP00000269980.2:n.854-14_854-13del
ENST00000457836.6:c.788-14_788-13del	ENSP00000416000.2:n.788-14_788-13del
ENST00000535632.5:n.483-14_483-13del
ENST00000540732.3:c.956-14_956-13del	ENSP00000443246.1:n.956-14_956-13del
ENST00000542943.5:c.767-14_767-13del	ENSP00000440345.1:n.767-14_767-13del
ENST00000545787.1:n.482-14_482-13del
ENST00000595085.5:c.854-14_854-13del	ENSP00000471150.2:n.854-14_854-13del
NM_000709.3:c.854-14_854-13del	NP_000700.1:n.854-14_854-13del
NM_001164783.1:c.854-17_854-16del	NP_001158255.1:n.854-17_854-16del
NM_000709.4:c.854-14_854-13del MANE Select	NP_000700.1:n.854-14_854-13del
NM_001164783.2:c.854-17_854-16del	NP_001158255.1:n.854-17_854-16del