Canonical Allele Identifier: CA882349554

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1434238027
• MyVariant Identifiers: chr19:g.41928308_41928309insG (hg19) ; chr19:g.41422403_41422404insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422406dup , CM000681.2:g.41422406dup	GRCh38
NC_000019.9:g.41928311dup , CM000681.1:g.41928311dup	GRCh37
NC_000019.8:g.46620151dup	NCBI36
NG_013004.1:g.29618dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.853+36dup MANE Select	ENSP00000269980.2:n.853+36dup
ENST00000269980.6:c.853+36dup	ENSP00000269980.2:n.853+36dup
ENST00000457836.6:c.787+36dup	ENSP00000416000.2:n.787+36dup
ENST00000535632.5:n.482+36dup
ENST00000540732.3:c.955+36dup	ENSP00000443246.1:n.955+36dup
ENST00000542943.5:c.766+36dup	ENSP00000440345.1:n.766+36dup
ENST00000545787.1:n.481+36dup
ENST00000595085.5:c.853+36dup	ENSP00000471150.2:n.853+36dup
NM_000709.3:c.853+36dup	NP_000700.1:n.853+36dup
NM_001164783.1:c.853+36dup	NP_001158255.1:n.853+36dup
NM_000709.4:c.853+36dup MANE Select	NP_000700.1:n.853+36dup
NM_001164783.2:c.853+36dup	NP_001158255.1:n.853+36dup