Canonical Allele Identifier: CA2576793806

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422099_41422102del , CM000681.2:g.41422099_41422102del	GRCh38
NC_000019.9:g.41928004_41928007del , CM000681.1:g.41928004_41928007del	GRCh37
NC_000019.8:g.46619844_46619847del	NCBI36
NG_013004.1:g.29311_29314del

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.647-65_647-62del MANE Select	ENSP00000269980.2:n.647-65_647-62del
ENST00000269980.6:c.647-65_647-62del	ENSP00000269980.2:n.647-65_647-62del
ENST00000457836.6:c.581-65_581-62del	ENSP00000416000.2:n.581-65_581-62del
ENST00000535632.5:n.276-65_276-62del
ENST00000538423.5:n.773-65_773-62del
ENST00000540732.3:c.749-65_749-62del	ENSP00000443246.1:n.749-65_749-62del
ENST00000541315.1:c.547-65_547-62del
ENST00000542943.5:c.560-65_560-62del	ENSP00000440345.1:n.560-65_560-62del
ENST00000545787.1:n.275-65_275-62del
ENST00000595085.5:c.647-65_647-62del	ENSP00000471150.2:n.647-65_647-62del
NM_000709.3:c.647-65_647-62del	NP_000700.1:n.647-65_647-62del
NM_001164783.1:c.647-65_647-62del	NP_001158255.1:n.647-65_647-62del
NM_000709.4:c.647-65_647-62del MANE Select	NP_000700.1:n.647-65_647-62del
NM_001164783.2:c.647-65_647-62del	NP_001158255.1:n.647-65_647-62del