Canonical Allele Identifier: CA2838609673

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424399dup , CM000681.2:g.41424399dup	GRCh38
NC_000019.9:g.41930304dup , CM000681.1:g.41930304dup	GRCh37
NC_000019.8:g.46622144dup	NCBI36
NG_013004.1:g.31611dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1168-39dup MANE Select	ENSP00000269980.2:n.1168-39dup
ENST00000269980.6:c.1168-39dup	ENSP00000269980.2:n.1168-39dup
ENST00000457836.6:c.1177-39dup	ENSP00000416000.2:n.1177-39dup
ENST00000540732.3:c.1270-39dup	ENSP00000443246.1:n.1270-39dup
ENST00000544905.1:c.62-103dup
ENST00000595085.5:c.922+1702dup	ENSP00000471150.2:n.922+1702dup
NM_000709.3:c.1168-39dup	NP_000700.1:n.1168-39dup
NM_001164783.1:c.1165-39dup	NP_001158255.1:n.1165-39dup
NM_000709.4:c.1168-39dup MANE Select	NP_000700.1:n.1168-39dup
NM_001164783.2:c.1165-39dup	NP_001158255.1:n.1165-39dup