Canonical Allele Identifier: CA1702731588
Gene: GLI3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.42148133_42148141delinsGCGCACACA , CM000669.2:g.42148133_42148141delinsGCGCACACA GRCh38
NC_000007.13:g.42187732_42187740delinsGCGCACACA , CM000669.1:g.42187732_42187740delinsGCGCACACA GRCh37
NC_000007.12:g.42154257_42154265delinsGCGCACACA NCBI36
NG_008434.1:g.93879_93887delinsTGTGTGCGC

Transcript Alleles

HGVS Amino-acid change
ENST00000395925.8:c.367+85_367+93delinsTGTGTGCGC MANE Select ENSP00000379258.3:n.367+85_367+93delinsTG...
ENST00000642432.1:c.190+85_190+93delinsTGTGTGCGC ENSP00000495498.1:n.190+85_190+93delinsTG...
ENST00000643264.1:c.190+85_190+93delinsTGTGTGCGC ENSP00000495207.1:n.190+85_190+93delinsTG...
ENST00000647255.1:c.190+85_190+93delinsTGTGTGCGC ENSP00000495745.1:n.190+85_190+93delinsTG...
ENST00000677288.1:c.190+85_190+93delinsTGTGTGCGC ENSP00000503986.1:n.190+85_190+93delinsTG...
ENST00000677605.1:c.367+85_367+93delinsTGTGTGCGC ENSP00000503743.1:n.367+85_367+93delinsTG...
ENST00000678429.1:c.367+85_367+93delinsTGTGTGCGC ENSP00000502957.1:n.367+85_367+93delinsTG...
ENST00000395925.7:c.367+85_367+93delinsTGTGTGCGC ENSP00000379258.3:n.367+85_367+93delinsTG...
ENST00000448703.5:c.367+85_367+93delinsTGTGTGCGC ENSP00000406135.1:n.367+85_367+93delinsTG...
ENST00000479210.1:n.344+85_344+93delinsTGTGTGCGC
NM_000168.5:c.367+85_367+93delinsTGTGTGCGC NP_000159.3:n.367+85_367+93delinsTGTGTGCG...
XM_005249703.1:c.367+85_367+93delinsTGTGTGCGC XP_005249760.1:n.367+85_367+93delinsTGTGT...
XM_005249704.2:c.367+85_367+93delinsTGTGTGCGC XP_005249761.1:n.367+85_367+93delinsTGTGT...
XM_011515272.1:c.367+85_367+93delinsTGTGTGCGC XP_011513574.1:n.367+85_367+93delinsTGTGT...
XM_011515273.1:c.367+85_367+93delinsTGTGTGCGC XP_011513575.1:n.367+85_367+93delinsTGTGT...
XM_011515274.1:c.190+85_190+93delinsTGTGTGCGC XP_011513576.1:n.190+85_190+93delinsTGTGT...
XM_011515274.2:c.190+85_190+93delinsTGTGTGCGC XP_011513576.1:n.190+85_190+93delinsTGTGT...
XM_017011997.1:c.364+85_364+93delinsTGTGTGCGC XP_016867486.1:n.364+85_364+93delinsTGTGT...
NM_000168.6:c.367+85_367+93delinsTGTGTGCGC MANE Select NP_000159.3:n.367+85_367+93delinsTGTGTGCG...