Canonical Allele Identifier: CA16043981
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 374929
ClinVar RCV Id: RCV000415547
dbSNP Id: rs1057519059
MyVariant Identifiers: chr19:g.41919977delinsAA (hg19) chr19:g.41414072delinsAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41414072delinsAA , CM000681.2:g.41414072delinsAA GRCh38
NC_000019.9:g.41919977delinsAA , CM000681.1:g.41919977delinsAA GRCh37
NC_000019.8:g.46611817delinsAA NCBI36
NG_013004.1:g.21284delinsAA

Transcript Alleles

HGVS Amino-acid change
ENST00000269980.7:c.399delinsAA MANE Select ENSP00000269980.2:p.Asn134LysfsTer4
ENST00000269980.6:c.399delinsAA ENSP00000269980.2:p.Asn134LysfsTer4
ENST00000457836.6:c.333delinsAA ENSP00000416000.2:p.Asn112LysfsTer4
ENST00000538423.5:n.525delinsAA
ENST00000540732.3:c.501delinsAA ENSP00000443246.1:p.Asn168LysfsTer4
ENST00000541315.1:c.206delinsAA
ENST00000542943.5:c.312delinsAA ENSP00000440345.1:p.Asn105LysfsTer4
ENST00000595085.5:c.399delinsAA ENSP00000471150.2:p.Asn134LysfsTer4
NM_000709.3:c.399delinsAA NP_000700.1:p.Asn134LysfsTer4
NM_001164783.1:c.399delinsAA NP_001158255.1:p.Asn134LysfsTer4
NM_000709.4:c.399delinsAA MANE Select NP_000700.1:p.Asn134LysfsTer4
NM_001164783.2:c.399delinsAA NP_001158255.1:p.Asn134LysfsTer4
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