Canonical Allele Identifier: CA342927
Gene: GLI3 HGNC NCBI

Linked Data

dbSNP Id: rs116840755
MyVariant Identifiers: chr7:g.42007427_42007428del (hg19) chr7:g.41967829_41967830del (hg38)
PubMed: PMID:20301638
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41967829_41967830del , CM000669.2:g.41967829_41967830del GRCh38
NC_000007.13:g.42007427_42007428del , CM000669.1:g.42007427_42007428del GRCh37
NC_000007.12:g.41973952_41973953del NCBI36
NG_008434.1:g.274191_274192del

Transcript Alleles

HGVS Amino-acid change
ENST00000395925.8:c.2197_2198del MANE Select ENSP00000379258.3:p.Thr733ArgfsTer4
ENST00000677288.1:c.2023_2024del ENSP00000503986.1:p.Thr675ArgfsTer4
ENST00000677605.1:c.2197_2198del ENSP00000503743.1:p.Thr733ArgfsTer4
ENST00000678429.1:c.2197_2198del ENSP00000502957.1:p.Thr733ArgfsTer4
ENST00000395925.7:c.2197_2198del ENSP00000379258.3:p.Thr733ArgfsTer4
ENST00000479210.1:n.2174_2175del
NM_000168.5:c.2197_2198del NP_000159.3:p.Thr733ArgfsTer4
XM_005249703.1:c.2197_2198del XP_005249760.1:p.Thr733ArgfsTer4
XM_005249704.2:c.2197_2198del XP_005249761.1:p.Thr733ArgfsTer4
XM_011515272.1:c.2197_2198del XP_011513574.1:p.Thr733ArgfsTer4
XM_011515273.1:c.2197_2198del XP_011513575.1:p.Thr733ArgfsTer4
XM_011515274.1:c.2020_2021del XP_011513576.1:p.Thr674ArgfsTer4
XM_011515274.2:c.2020_2021del XP_011513576.1:p.Thr674ArgfsTer4
XM_017011997.1:c.2194_2195del XP_016867486.1:p.Thr732ArgfsTer4
NM_000168.6:c.2197_2198del MANE Select NP_000159.3:p.Thr733ArgfsTer4
Search 100 bp 5'
Search 100 bp 3'