Canonical Allele Identifier: CA252028
Gene: UNC13D HGNC NCBI

Linked Data

ClinVar Variation Id: 1997
ClinVar RCV Id: RCV000002074
dbSNP Id: rs796065025

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75843206del , CM000679.2:g.75843206del GRCh38
NC_000017.10:g.73839287del , CM000679.1:g.73839287del GRCh37
NC_000017.9:g.71350882del NCBI36
NG_007266.1:g.6514del , LRG_122:g.6514del

Transcript Alleles

HGVS Amino-acid change
ENST00000585574.6:c.159del ENSP00000514389.1:p.Asn54ThrfsTer3
ENST00000587504.6:c.159del ENSP00000514388.1:p.Asn54ThrfsTer3
ENST00000588774.2:n.1003del
ENST00000592386.6:c.198del ENSP00000466826.2:p.Asn67ThrfsTer3
ENST00000699512.1:c.111del ENSP00000514407.1:p.Asn38ThrfsTer3
ENST00000699513.1:c.216del ENSP00000514408.1:p.Asn73ThrfsTer3
ENST00000207549.9:c.216del MANE Select ENSP00000207549.3:p.Asn73ThrfsTer3
ENST00000207549.8:c.216del ENSP00000207549.3:p.Asn73ThrfsTer3
ENST00000412096.6:c.216del ENSP00000388093.1:p.Asn73ThrfsTer3
ENST00000585574.5:n.192del
ENST00000586108.1:c.216del ENSP00000464749.1:p.Asn73ThrfsTer3
ENST00000586147.1:c.117+1017del ENSP00000466543.1:n.117+1017del
ENST00000587504.5:n.181del
ENST00000588774.1:n.893del
ENST00000590762.5:c.159del ENSP00000467653.1:p.Asn54ThrfsTer3
ENST00000591563.5:n.297del
ENST00000592386.5:c.195del ENSP00000466826.1:p.Asn66ThrfsTer3
NM_199242.2:c.216del , LRG_122t1:c.216del NP_954712.1:p.Asn73ThrfsTer3
XM_011524504.1:c.216del XP_011522806.1:p.Asn73ThrfsTer3
XM_011524505.1:c.216del XP_011522807.1:p.Asn73ThrfsTer3
XM_011524506.1:c.216del XP_011522808.1:p.Asn73ThrfsTer3
XM_011524507.1:c.-394del XP_011522809.1:n.-394del
XM_011524504.2:c.216del XP_011522806.1:p.Asn73ThrfsTer3
XM_011524507.2:c.-394del XP_011522809.1:n.-394del
NM_199242.3:c.216del MANE Select NP_954712.1:p.Asn73ThrfsTer3