Canonical Allele Identifier: CA2336458940

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422088_41422089delinsTG , CM000681.2:g.41422088_41422089delinsTG	GRCh38
NC_000019.9:g.41927993_41927994delinsTG , CM000681.1:g.41927993_41927994delinsTG	GRCh37
NC_000019.8:g.46619833_46619834delinsTG	NCBI36
NG_013004.1:g.29300_29301delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.647-76_647-75delinsTG MANE Select	ENSP00000269980.2:n.647-76_647-75delinsTG...
ENST00000269980.6:c.647-76_647-75delinsTG	ENSP00000269980.2:n.647-76_647-75delinsTG...
ENST00000457836.6:c.581-76_581-75delinsTG	ENSP00000416000.2:n.581-76_581-75delinsTG...
ENST00000535632.5:n.276-76_276-75delinsTG
ENST00000538423.5:n.773-76_773-75delinsTG
ENST00000540732.3:c.749-76_749-75delinsTG	ENSP00000443246.1:n.749-76_749-75delinsTG...
ENST00000541315.1:c.547-76_547-75delinsTG
ENST00000542943.5:c.560-76_560-75delinsTG	ENSP00000440345.1:n.560-76_560-75delinsTG...
ENST00000545787.1:n.275-76_275-75delinsTG
ENST00000595085.5:c.647-76_647-75delinsTG	ENSP00000471150.2:n.647-76_647-75delinsTG...
NM_000709.3:c.647-76_647-75delinsTG	NP_000700.1:n.647-76_647-75delinsTG
NM_001164783.1:c.647-76_647-75delinsTG	NP_001158255.1:n.647-76_647-75delinsTG
NM_000709.4:c.647-76_647-75delinsTG MANE Select	NP_000700.1:n.647-76_647-75delinsTG
NM_001164783.2:c.647-76_647-75delinsTG	NP_001158255.1:n.647-76_647-75delinsTG