Canonical Allele Identifier: CA2840728369

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410830_41410831del , CM000681.2:g.41410830_41410831del	GRCh38
NC_000019.9:g.41916735_41916736del , CM000681.1:g.41916735_41916736del	GRCh37
NC_000019.8:g.46608575_46608576del	NCBI36
NG_013004.1:g.18042_18043del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.288+14_288+15del MANE Select	ENSP00000269980.2:n.288+14_288+15del
ENST00000269980.6:c.288+14_288+15del	ENSP00000269980.2:n.288+14_288+15del
ENST00000457836.6:c.222+14_222+15del	ENSP00000416000.2:n.222+14_222+15del
ENST00000538423.5:n.322_323del
ENST00000540732.3:c.390+14_390+15del	ENSP00000443246.1:n.390+14_390+15del
ENST00000541315.1:c.95+14_95+15del
ENST00000542943.5:c.288+14_288+15del	ENSP00000440345.1:n.288+14_288+15del
ENST00000595085.5:c.288+14_288+15del	ENSP00000471150.2:n.288+14_288+15del
ENST00000604424.1:n.544_545del
NM_000709.3:c.288+14_288+15del	NP_000700.1:n.288+14_288+15del
NM_001164783.1:c.288+14_288+15del	NP_001158255.1:n.288+14_288+15del
NM_000709.4:c.288+14_288+15del MANE Select	NP_000700.1:n.288+14_288+15del
NM_001164783.2:c.288+14_288+15del	NP_001158255.1:n.288+14_288+15del