Canonical Allele Identifier: CA633470450

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1362557533
• gnomAD v2: 19-41916640-GC-G
• gnomAD v4: 19-41410735-GC-G
• MyVariant Identifiers: chr19:g.41916641del (hg19) ; chr19:g.41410736del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410738del , CM000681.2:g.41410738del	GRCh38
NC_000019.9:g.41916643del , CM000681.1:g.41916643del	GRCh37
NC_000019.8:g.46608483del	NCBI36
NG_013004.1:g.17950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.210del MANE Select	ENSP00000269980.2:p.Asn71ThrfsTer?
ENST00000269980.6:c.210del	ENSP00000269980.2:p.Asn71ThrfsTer?
ENST00000457836.6:c.144del	ENSP00000416000.2:p.Asn49ThrfsTer?
ENST00000538423.5:n.230del
ENST00000540732.3:c.312del	ENSP00000443246.1:p.Asn105ThrfsTer?
ENST00000541315.1:c.17del
ENST00000542943.5:c.210del	ENSP00000440345.1:p.Asn71ThrfsTer?
ENST00000595085.5:c.210del	ENSP00000471150.2:p.Asn71ThrfsTer?
ENST00000604424.1:n.452del
NM_000709.3:c.210del	NP_000700.1:p.Asn71ThrfsTer?
NM_001164783.1:c.210del	NP_001158255.1:p.Asn71ThrfsTer?
NM_000709.4:c.210del MANE Select	NP_000700.1:p.Asn71ThrfsTer?
NM_001164783.2:c.210del	NP_001158255.1:p.Asn71ThrfsTer?