Canonical Allele Identifier: CA342913
Gene: GLI3 HGNC NCBI

Linked Data

dbSNP Id: rs116840745
MyVariant Identifiers: chr7:g.42012007del (hg19) chr7:g.41972408del (hg38)
PubMed: PMID:20301638
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41972409del , CM000669.2:g.41972409del GRCh38
NC_000007.13:g.42012008del , CM000669.1:g.42012008del GRCh37
NC_000007.12:g.41978533del NCBI36
NG_008434.1:g.269612del

Transcript Alleles

HGVS Amino-acid change
ENST00000395925.8:c.2032del MANE Select ENSP00000379258.3:p.Asp678ThrfsTer15
ENST00000677288.1:c.1858del ENSP00000503986.1:p.Asp620ThrfsTer15
ENST00000677605.1:c.2032del ENSP00000503743.1:p.Asp678ThrfsTer15
ENST00000678429.1:c.2032del ENSP00000502957.1:p.Asp678ThrfsTer15
ENST00000395925.7:c.2032del ENSP00000379258.3:p.Asp678ThrfsTer15
ENST00000479210.1:n.2009del
NM_000168.5:c.2032del NP_000159.3:p.Asp678ThrfsTer15
XM_005249703.1:c.2032del XP_005249760.1:p.Asp678ThrfsTer15
XM_005249704.2:c.2032del XP_005249761.1:p.Asp678ThrfsTer15
XM_011515272.1:c.2032del XP_011513574.1:p.Asp678ThrfsTer15
XM_011515273.1:c.2032del XP_011513575.1:p.Asp678ThrfsTer15
XM_011515274.1:c.1855del XP_011513576.1:p.Asp619ThrfsTer15
XM_011515274.2:c.1855del XP_011513576.1:p.Asp619ThrfsTer15
XM_017011997.1:c.2029del XP_016867486.1:p.Asp677ThrfsTer15
NM_000168.6:c.2032del MANE Select NP_000159.3:p.Asp678ThrfsTer15
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