Canonical Allele Identifier: CA913016480

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41930454_41930457del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424550_41424553del , CM000681.2:g.41424550_41424553del	GRCh38
NC_000019.9:g.41930455_41930458del , CM000681.1:g.41930455_41930458del	GRCh37
NC_000019.8:g.46622295_46622298del	NCBI36
NG_013004.1:g.31762_31765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1280_1283del MANE Select	ENSP00000269980.2:p.Leu427ProfsTer?
ENST00000269980.6:c.1280_1283del	ENSP00000269980.2:p.Leu427ProfsTer?
ENST00000457836.6:c.1289_1292del	ENSP00000416000.2:p.Leu430ProfsTer?
ENST00000540732.3:c.1382_1385del	ENSP00000443246.1:p.Leu461ProfsTer?
ENST00000544905.1:c.110_113del
ENST00000595085.5:c.922+1853_922+1856del	ENSP00000471150.2:n.922+1853_922+1856del
NM_000709.3:c.1280_1283del	NP_000700.1:p.Leu427ProfsTer?
NM_001164783.1:c.1277_1280del	NP_001158255.1:p.Leu426ProfsTer?
NM_000709.4:c.1280_1283del MANE Select	NP_000700.1:p.Leu427ProfsTer?
NM_001164783.2:c.1277_1280del	NP_001158255.1:p.Leu426ProfsTer?