Canonical Allele Identifier: CA2735979435

Gene: BCKDHA

Linked Data

• dbSNP Id: rs2123254665

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410993_41410994del , CM000681.2:g.41410993_41410994del	GRCh38
NC_000019.9:g.41916898_41916899del , CM000681.1:g.41916898_41916899del	GRCh37
NC_000019.8:g.46608738_46608739del	NCBI36
NG_013004.1:g.18205_18206del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.359_360del MANE Select	ENSP00000269980.2:p.Tyr120Ter
ENST00000269980.6:c.359_360del	ENSP00000269980.2:p.Tyr120Ter
ENST00000457836.6:c.293_294del	ENSP00000416000.2:p.Tyr98Ter
ENST00000538423.5:n.485_486del
ENST00000540732.3:c.461_462del	ENSP00000443246.1:p.Tyr154Ter
ENST00000541315.1:c.166_167del
ENST00000542943.5:c.288+177_288+178del	ENSP00000440345.1:n.288+177_288+178del
ENST00000595085.5:c.359_360del	ENSP00000471150.2:p.Tyr120Ter
NM_000709.3:c.359_360del	NP_000700.1:p.Tyr120Ter
NM_001164783.1:c.359_360del	NP_001158255.1:p.Tyr120Ter
NM_000709.4:c.359_360del MANE Select	NP_000700.1:p.Tyr120Ter
NM_001164783.2:c.359_360del	NP_001158255.1:p.Tyr120Ter