Canonical Allele Identifier: CA221215
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 93372
ClinVar RCV Id: RCV000079254 RCV000692185 RCV001275915
dbSNP Id: rs398123505
ExAC: 19:41928203 ATCT / A
gnomAD v2: 19-41928203-ATCT-A
gnomAD v3: 19-41422298-ATCT-A
gnomAD v4: 19-41422298-ATCT-A
MyVariant Identifiers: chr19:g.41928210_41928212del (hg19) chr19:g.41928204_41928206del (hg19) chr19:g.41928210_41928212delTCT (hg19) chr19:g.41422305_41422307del (hg38) chr19:g.41422299_41422301del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422305_41422307del , CM000681.2:g.41422305_41422307del GRCh38
NC_000019.9:g.41928210_41928212del , CM000681.1:g.41928210_41928212del GRCh37
NC_000019.8:g.46620050_46620052del NCBI36
NG_013004.1:g.29517_29519del

Transcript Alleles

HGVS Amino-acid change
ENST00000269980.7:c.788_790del MANE Select ENSP00000269980.2:p.Phe263del
ENST00000269980.6:c.788_790del ENSP00000269980.2:p.Phe263del
ENST00000457836.6:c.722_724del ENSP00000416000.2:p.Phe241del
ENST00000535632.5:n.417_419del
ENST00000540732.3:c.890_892del ENSP00000443246.1:p.Phe297del
ENST00000542943.5:c.701_703del ENSP00000440345.1:p.Phe234del
ENST00000545787.1:n.416_418del
ENST00000595085.5:c.788_790del ENSP00000471150.2:p.Phe263del
NM_000709.3:c.788_790del NP_000700.1:p.Phe263del
NM_001164783.1:c.788_790del NP_001158255.1:p.Phe263del
NM_000709.4:c.788_790del MANE Select NP_000700.1:p.Phe263del
NM_001164783.2:c.788_790del NP_001158255.1:p.Phe263del
Search 100 bp 5'
Search 100 bp 3'