Canonical Allele Identifier: CA16618462
Gene: GLI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 423178
ClinVar RCV Id: RCV000486324
dbSNP Id: rs1064796278

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41966172del , CM000669.2:g.41966172del GRCh38
NC_000007.13:g.42005770del , CM000669.1:g.42005770del GRCh37
NC_000007.12:g.41972295del NCBI36
NG_008434.1:g.275849del

Transcript Alleles

HGVS Amino-acid change
ENST00000395925.8:c.2901del MANE Select ENSP00000379258.3:p.Val968TrpfsTer?
ENST00000677288.1:c.2727del ENSP00000503986.1:p.Val910TrpfsTer?
ENST00000677605.1:c.2901del ENSP00000503743.1:p.Val968TrpfsTer?
ENST00000678429.1:c.2901del ENSP00000502957.1:p.Val968TrpfsTer?
ENST00000395925.7:c.2901del ENSP00000379258.3:p.Val968TrpfsTer?
ENST00000479210.1:n.2878del
NM_000168.5:c.2901del NP_000159.3:p.Val968TrpfsTer?
XM_005249703.1:c.2901del XP_005249760.1:p.Val968TrpfsTer?
XM_005249704.2:c.2901del XP_005249761.1:p.Val968TrpfsTer?
XM_011515272.1:c.2901del XP_011513574.1:p.Val968TrpfsTer?
XM_011515273.1:c.2901del XP_011513575.1:p.Val968TrpfsTer?
XM_011515274.1:c.2724del XP_011513576.1:p.Val909TrpfsTer?
XM_011515274.2:c.2724del XP_011513576.1:p.Val909TrpfsTer?
XM_017011997.1:c.2898del XP_016867486.1:p.Val967TrpfsTer?
NM_000168.6:c.2901del MANE Select NP_000159.3:p.Val968TrpfsTer?