Canonical Allele Identifier: CA342929
Gene: GLI3 HGNC NCBI

Linked Data

dbSNP Id: rs116840757
MyVariant Identifiers: chr7:g.42007270_42007274del (hg19) chr7:g.41967672_41967676del (hg38)
PubMed: PMID:20301638
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41967674_41967678del , CM000669.2:g.41967674_41967678del GRCh38
NC_000007.13:g.42007272_42007276del , CM000669.1:g.42007272_42007276del GRCh37
NC_000007.12:g.41973797_41973801del NCBI36
NG_008434.1:g.274345_274349del

Transcript Alleles

HGVS Amino-acid change
ENST00000395925.8:c.2351_2355del MANE Select ENSP00000379258.3:p.Lys784SerfsTer15
ENST00000677288.1:c.2177_2181del ENSP00000503986.1:p.Lys726SerfsTer15
ENST00000677605.1:c.2351_2355del ENSP00000503743.1:p.Lys784SerfsTer15
ENST00000678429.1:c.2351_2355del ENSP00000502957.1:p.Lys784SerfsTer15
ENST00000395925.7:c.2351_2355del ENSP00000379258.3:p.Lys784SerfsTer15
ENST00000479210.1:n.2328_2332del
NM_000168.5:c.2351_2355del NP_000159.3:p.Lys784SerfsTer15
XM_005249703.1:c.2351_2355del XP_005249760.1:p.Lys784SerfsTer15
XM_005249704.2:c.2351_2355del XP_005249761.1:p.Lys784SerfsTer15
XM_011515272.1:c.2351_2355del XP_011513574.1:p.Lys784SerfsTer15
XM_011515273.1:c.2351_2355del XP_011513575.1:p.Lys784SerfsTer15
XM_011515274.1:c.2174_2178del XP_011513576.1:p.Lys725SerfsTer15
XM_011515274.2:c.2174_2178del XP_011513576.1:p.Lys725SerfsTer15
XM_017011997.1:c.2348_2352del XP_016867486.1:p.Lys783SerfsTer15
NM_000168.6:c.2351_2355del MANE Select NP_000159.3:p.Lys784SerfsTer15
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