Canonical Allele Identifier: CA2585308220

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41422998-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422999del , CM000681.2:g.41422999del	GRCh38
NC_000019.9:g.41928904del , CM000681.1:g.41928904del	GRCh37
NC_000019.8:g.46620744del	NCBI36
NG_013004.1:g.30211del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.997del MANE Select	ENSP00000269980.2:p.Ile333SerfsTer?
ENST00000269980.6:c.997del	ENSP00000269980.2:p.Ile333SerfsTer?
ENST00000457836.6:c.1006del	ENSP00000416000.2:p.Ile336SerfsTer?
ENST00000540732.3:c.1099del	ENSP00000443246.1:p.Ile367SerfsTer?
ENST00000542943.5:c.910del	ENSP00000440345.1:p.Ile304SerfsTer?
ENST00000595085.5:c.922+302del	ENSP00000471150.2:n.922+302del
NM_000709.3:c.997del	NP_000700.1:p.Ile333SerfsTer?
NM_001164783.1:c.994del	NP_001158255.1:p.Ile332SerfsTer?
NM_000709.4:c.997del MANE Select	NP_000700.1:p.Ile333SerfsTer?
NM_001164783.2:c.994del	NP_001158255.1:p.Ile332SerfsTer?