Canonical Allele Identifier: CA913016473

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41916552dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410648dup , CM000681.2:g.41410648dup	GRCh38
NC_000019.9:g.41916553dup , CM000681.1:g.41916553dup	GRCh37
NC_000019.8:g.46608393dup	NCBI36
NG_013004.1:g.17860dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.120dup MANE Select	ENSP00000269980.2:p.Gln41AlafsTer10
ENST00000269980.6:c.120dup	ENSP00000269980.2:p.Gln41AlafsTer10
ENST00000457836.6:c.58-4dup	ENSP00000416000.2:n.58-4dup
ENST00000538423.5:n.140dup
ENST00000540732.3:c.222dup	ENSP00000443246.1:p.Gln75AlafsTer10
ENST00000542943.5:c.120dup	ENSP00000440345.1:p.Gln41AlafsTer10
ENST00000595085.5:c.120dup	ENSP00000471150.2:p.Gln41AlafsTer10
ENST00000604424.1:n.362dup
NM_000709.3:c.120dup	NP_000700.1:p.Gln41AlafsTer10
NM_001164783.1:c.120dup	NP_001158255.1:p.Gln41AlafsTer10
NM_000709.4:c.120dup MANE Select	NP_000700.1:p.Gln41AlafsTer10
NM_001164783.2:c.120dup	NP_001158255.1:p.Gln41AlafsTer10