Canonical Allele Identifier: CA2585308446

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41424481-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424485del , CM000681.2:g.41424485del	GRCh38
NC_000019.9:g.41930390del , CM000681.1:g.41930390del	GRCh37
NC_000019.8:g.46622230del	NCBI36
NG_013004.1:g.31697del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1215del MANE Select	ENSP00000269980.2:p.Asn406ThrfsTer?
ENST00000269980.6:c.1215del	ENSP00000269980.2:p.Asn406ThrfsTer?
ENST00000457836.6:c.1224del	ENSP00000416000.2:p.Asn409ThrfsTer?
ENST00000540732.3:c.1317del	ENSP00000443246.1:p.Asn440ThrfsTer?
ENST00000544905.1:c.62-17del
ENST00000595085.5:c.922+1788del	ENSP00000471150.2:n.922+1788del
NM_000709.3:c.1215del	NP_000700.1:p.Asn406ThrfsTer?
NM_001164783.1:c.1212del	NP_001158255.1:p.Asn405ThrfsTer?
NM_000709.4:c.1215del MANE Select	NP_000700.1:p.Asn406ThrfsTer?
NM_001164783.2:c.1212del	NP_001158255.1:p.Asn405ThrfsTer?