Canonical Allele Identifier: CA341301
Gene: GLI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 13814
ClinVar RCV Id: RCV000014825
dbSNP Id: rs116840744

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41972417del , CM000669.2:g.41972417del GRCh38
NC_000007.13:g.42012016del , CM000669.1:g.42012016del GRCh37
NC_000007.12:g.41978541del NCBI36
NG_008434.1:g.269603del

Transcript Alleles

HGVS Amino-acid change
ENST00000395925.8:c.2023del MANE Select ENSP00000379258.3:p.Glu675SerfsTer18
ENST00000677288.1:c.1849del ENSP00000503986.1:p.Glu617SerfsTer18
ENST00000677605.1:c.2023del ENSP00000503743.1:p.Glu675SerfsTer18
ENST00000678429.1:c.2023del ENSP00000502957.1:p.Glu675SerfsTer18
ENST00000395925.7:c.2023del ENSP00000379258.3:p.Glu675SerfsTer18
ENST00000479210.1:n.2000del
NM_000168.5:c.2023del NP_000159.3:p.Glu675SerfsTer18
XM_005249703.1:c.2023del XP_005249760.1:p.Glu675SerfsTer18
XM_005249704.2:c.2023del XP_005249761.1:p.Glu675SerfsTer18
XM_011515272.1:c.2023del XP_011513574.1:p.Glu675SerfsTer18
XM_011515273.1:c.2023del XP_011513575.1:p.Glu675SerfsTer18
XM_011515274.1:c.1846del XP_011513576.1:p.Glu616SerfsTer18
XM_011515274.2:c.1846del XP_011513576.1:p.Glu616SerfsTer18
XM_017011997.1:c.2020del XP_016867486.1:p.Glu674SerfsTer18
NM_000168.6:c.2023del MANE Select NP_000159.3:p.Glu675SerfsTer18