Canonical Allele Identifier: CA9461349
Gene: BCKDHA HGNC NCBI

Linked Data

dbSNP Id: rs745373220
ExAC: 19:41928880 TG / T
gnomAD v2: 19-41928880-TG-T
gnomAD v4: 19-41422975-TG-T
MyVariant Identifiers: chr19:g.41928881del (hg19) chr19:g.41422976del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422979del , CM000681.2:g.41422979del GRCh38
NC_000019.9:g.41928884del , CM000681.1:g.41928884del GRCh37
NC_000019.8:g.46620724del NCBI36
NG_013004.1:g.30191del

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.996-19del MANE Select ENSP00000269980.2:n.996-19del
ENST00000269980.6:c.996-19del ENSP00000269980.2:n.996-19del
ENST00000457836.6:c.986del ENSP00000416000.2:p.Gly329AlafsTer?
ENST00000540732.3:c.1098-19del ENSP00000443246.1:n.1098-19del
ENST00000542943.5:c.909-19del ENSP00000440345.1:n.909-19del
ENST00000595085.5:c.922+282del ENSP00000471150.2:n.922+282del
NM_000709.3:c.996-19del NP_000700.1:n.996-19del
NM_001164783.1:c.993-19del NP_001158255.1:n.993-19del
NM_000709.4:c.996-19del MANE Select NP_000700.1:n.996-19del
NM_001164783.2:c.993-19del NP_001158255.1:n.993-19del
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