Canonical Allele Identifier: CA2814427367

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41421969_41421971del , CM000681.2:g.41421969_41421971del	GRCh38
NC_000019.9:g.41927874_41927876del , CM000681.1:g.41927874_41927876del	GRCh37
NC_000019.8:g.46619714_46619716del	NCBI36
NG_013004.1:g.29181_29183del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.647-195_647-193del MANE Select	ENSP00000269980.2:n.647-195_647-193del
ENST00000269980.6:c.647-195_647-193del	ENSP00000269980.2:n.647-195_647-193del
ENST00000457836.6:c.581-195_581-193del	ENSP00000416000.2:n.581-195_581-193del
ENST00000535632.5:n.276-195_276-193del
ENST00000538423.5:n.773-195_773-193del
ENST00000540732.3:c.749-195_749-193del	ENSP00000443246.1:n.749-195_749-193del
ENST00000541315.1:c.547-195_547-193del
ENST00000542943.5:c.560-195_560-193del	ENSP00000440345.1:n.560-195_560-193del
ENST00000545787.1:n.275-195_275-193del
ENST00000595085.5:c.647-195_647-193del	ENSP00000471150.2:n.647-195_647-193del
NM_000709.3:c.647-195_647-193del	NP_000700.1:n.647-195_647-193del
NM_001164783.1:c.647-195_647-193del	NP_001158255.1:n.647-195_647-193del
NM_000709.4:c.647-195_647-193del MANE Select	NP_000700.1:n.647-195_647-193del
NM_001164783.2:c.647-195_647-193del	NP_001158255.1:n.647-195_647-193del