Canonical Allele Identifier: CA2695207669
Gene: GLI3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.42040136del , CM000669.2:g.42040136del GRCh38
NC_000007.13:g.42079735del , CM000669.1:g.42079735del GRCh37
NC_000007.12:g.42046260del NCBI36
NG_008434.1:g.201885del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.931del MANE Select ENSP00000379258.3:p.Arg311GlyfsTer?
ENST00000677288.1:c.754del ENSP00000503986.1:p.Arg252GlyfsTer?
ENST00000677605.1:c.931del ENSP00000503743.1:p.Arg311GlyfsTer?
ENST00000678429.1:c.931del ENSP00000502957.1:p.Arg311GlyfsTer?
ENST00000395925.7:c.931del ENSP00000379258.3:p.Arg311GlyfsTer?
ENST00000479210.1:n.908del
NM_000168.5:c.931del NP_000159.3:p.Arg311GlyfsTer?
XM_005249703.1:c.931del XP_005249760.1:p.Arg311GlyfsTer?
XM_005249704.2:c.931del XP_005249761.1:p.Arg311GlyfsTer?
XM_011515272.1:c.931del XP_011513574.1:p.Arg311GlyfsTer?
XM_011515273.1:c.931del XP_011513575.1:p.Arg311GlyfsTer?
XM_011515274.1:c.754del XP_011513576.1:p.Arg252GlyfsTer?
XM_011515274.2:c.754del XP_011513576.1:p.Arg252GlyfsTer?
XM_017011997.1:c.928del XP_016867486.1:p.Arg310GlyfsTer?
NM_000168.6:c.931del MANE Select NP_000159.3:p.Arg311GlyfsTer?