Canonical Allele Identifier: CA342926
Gene: GLI3 HGNC NCBI

Linked Data

dbSNP Id: rs116840753
MyVariant Identifiers: chr7:g.42007452_42007453insG (hg19) chr7:g.41967854_41967855insG (hg38)
PubMed: PMID:20301638
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41967856dup , CM000669.2:g.41967856dup GRCh38
NC_000007.13:g.42007454dup , CM000669.1:g.42007454dup GRCh37
NC_000007.12:g.41973979dup NCBI36
NG_008434.1:g.274166dup

Transcript Alleles

HGVS Amino-acid change
ENST00000395925.8:c.2172dup MANE Select ENSP00000379258.3:p.Asn725GlnfsTer13
ENST00000677288.1:c.1998dup ENSP00000503986.1:p.Asn667GlnfsTer13
ENST00000677605.1:c.2172dup ENSP00000503743.1:p.Asn725GlnfsTer13
ENST00000678429.1:c.2172dup ENSP00000502957.1:p.Asn725GlnfsTer13
ENST00000395925.7:c.2172dup ENSP00000379258.3:p.Asn725GlnfsTer13
ENST00000479210.1:n.2149dup
NM_000168.5:c.2172dup NP_000159.3:p.Asn725GlnfsTer13
XM_005249703.1:c.2172dup XP_005249760.1:p.Asn725GlnfsTer13
XM_005249704.2:c.2172dup XP_005249761.1:p.Asn725GlnfsTer13
XM_011515272.1:c.2172dup XP_011513574.1:p.Asn725GlnfsTer13
XM_011515273.1:c.2172dup XP_011513575.1:p.Asn725GlnfsTer13
XM_011515274.1:c.1995dup XP_011513576.1:p.Asn666GlnfsTer13
XM_011515274.2:c.1995dup XP_011513576.1:p.Asn666GlnfsTer13
XM_017011997.1:c.2169dup XP_016867486.1:p.Asn724GlnfsTer13
NM_000168.6:c.2172dup MANE Select NP_000159.3:p.Asn725GlnfsTer13
Search 100 bp 5'
Search 100 bp 3'