Canonical Allele Identifier: CA2585308443

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41424433-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424434dup , CM000681.2:g.41424434dup	GRCh38
NC_000019.9:g.41930339dup , CM000681.1:g.41930339dup	GRCh37
NC_000019.8:g.46622179dup	NCBI36
NG_013004.1:g.31646dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1168-4dup MANE Select	ENSP00000269980.2:n.1168-4dup
ENST00000269980.6:c.1168-4dup	ENSP00000269980.2:n.1168-4dup
ENST00000457836.6:c.1177-4dup	ENSP00000416000.2:n.1177-4dup
ENST00000540732.3:c.1270-4dup	ENSP00000443246.1:n.1270-4dup
ENST00000544905.1:c.62-68dup
ENST00000595085.5:c.922+1737dup	ENSP00000471150.2:n.922+1737dup
NM_000709.3:c.1168-4dup	NP_000700.1:n.1168-4dup
NM_001164783.1:c.1165-4dup	NP_001158255.1:n.1165-4dup
NM_000709.4:c.1168-4dup MANE Select	NP_000700.1:n.1168-4dup
NM_001164783.2:c.1165-4dup	NP_001158255.1:n.1165-4dup