Canonical Allele Identifier: CA2336453853

Gene: BCKDHA

Linked Data

• dbSNP Id: rs2039244693

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410835del , CM000681.2:g.41410835del	GRCh38
NC_000019.9:g.41916740del , CM000681.1:g.41916740del	GRCh37
NC_000019.8:g.46608580del	NCBI36
NG_013004.1:g.18047del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.288+19del MANE Select	ENSP00000269980.2:n.288+19del
ENST00000269980.6:c.288+19del	ENSP00000269980.2:n.288+19del
ENST00000457836.6:c.222+19del	ENSP00000416000.2:n.222+19del
ENST00000538423.5:n.327del
ENST00000540732.3:c.390+19del	ENSP00000443246.1:n.390+19del
ENST00000541315.1:c.95+19del
ENST00000542943.5:c.288+19del	ENSP00000440345.1:n.288+19del
ENST00000595085.5:c.288+19del	ENSP00000471150.2:n.288+19del
ENST00000604424.1:n.549del
NM_000709.3:c.288+19del	NP_000700.1:n.288+19del
NM_001164783.1:c.288+19del	NP_001158255.1:n.288+19del
NM_000709.4:c.288+19del MANE Select	NP_000700.1:n.288+19del
NM_001164783.2:c.288+19del	NP_001158255.1:n.288+19del