Canonical Allele Identifier: CA2695228767

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422371del , CM000681.2:g.41422371del	GRCh38
NC_000019.9:g.41928276del , CM000681.1:g.41928276del	GRCh37
NC_000019.8:g.46620116del	NCBI36
NG_013004.1:g.29583del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.853+1del
ENST00000269980.6:c.853+1del
ENST00000457836.6:c.787+1del
ENST00000535632.5:n.482+1del
ENST00000540732.3:c.955+1del
ENST00000542943.5:c.766+1del
ENST00000545787.1:n.481+1del
ENST00000595085.5:c.853+1del
NM_000709.3:c.853+1del
NM_001164783.1:c.853+1del
NM_000709.4:c.853+1del
NM_001164783.2:c.853+1del