Canonical Allele Identifier: CA221226
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 93378
ClinVar RCV Id: RCV000179781
dbSNP Id: rs398123510
MyVariant Identifiers: chr19:g.41928589_41928590del (hg19) chr19:g.41928589_41928590delGT (hg19) chr19:g.41422684_41422685del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422684_41422685del , CM000681.2:g.41422684_41422685del GRCh38
NC_000019.9:g.41928589_41928590del , CM000681.1:g.41928589_41928590del GRCh37
NC_000019.8:g.46620429_46620430del NCBI36
NG_013004.1:g.29896_29897del

Transcript Alleles

HGVS Amino-acid change
ENST00000269980.7:c.909_910del MANE Select ENSP00000269980.2:p.Phe304CysfsTer?
ENST00000269980.6:c.909_910del ENSP00000269980.2:p.Phe304CysfsTer?
ENST00000457836.6:c.843_844del ENSP00000416000.2:p.Phe282CysfsTer?
ENST00000535632.5:n.538_539del
ENST00000540732.3:c.1011_1012del ENSP00000443246.1:p.Phe338CysfsTer?
ENST00000542943.5:c.822_823del ENSP00000440345.1:p.Phe275CysfsTer?
ENST00000545787.1:n.537_538del
ENST00000595085.5:c.909_910del ENSP00000471150.2:p.Phe304CysfsTer?
NM_000709.3:c.909_910del NP_000700.1:p.Phe304CysfsTer?
NM_001164783.1:c.906_907del NP_001158255.1:p.Phe303CysfsTer?
NM_000709.4:c.909_910del MANE Select NP_000700.1:p.Phe304CysfsTer?
NM_001164783.2:c.906_907del NP_001158255.1:p.Phe303CysfsTer?
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