Canonical Allele Identifier: CA913016479

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41930439_41930442del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424535_41424538del , CM000681.2:g.41424535_41424538del	GRCh38
NC_000019.9:g.41930440_41930443del , CM000681.1:g.41930440_41930443del	GRCh37
NC_000019.8:g.46622280_46622283del	NCBI36
NG_013004.1:g.31747_31750del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1265_1268del MANE Select	ENSP00000269980.2:p.Lys422SerfsTer?
ENST00000269980.6:c.1265_1268del	ENSP00000269980.2:p.Lys422SerfsTer?
ENST00000457836.6:c.1274_1277del	ENSP00000416000.2:p.Lys425SerfsTer?
ENST00000540732.3:c.1367_1370del	ENSP00000443246.1:p.Lys456SerfsTer?
ENST00000544905.1:c.95_98del
ENST00000595085.5:c.922+1838_922+1841del	ENSP00000471150.2:n.922+1838_922+1841del
NM_000709.3:c.1265_1268del	NP_000700.1:p.Lys422SerfsTer?
NM_001164783.1:c.1262_1265del	NP_001158255.1:p.Lys421SerfsTer?
NM_000709.4:c.1265_1268del MANE Select	NP_000700.1:p.Lys422SerfsTer?
NM_001164783.2:c.1262_1265del	NP_001158255.1:p.Lys421SerfsTer?