Canonical Allele Identifier: CA342912
Gene: GLI3 HGNC NCBI

Linked Data

dbSNP Id: rs116840742

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41972439_41972442del , CM000669.2:g.41972439_41972442del GRCh38
NC_000007.13:g.42012038_42012041del , CM000669.1:g.42012038_42012041del GRCh37
NC_000007.12:g.41978563_41978566del NCBI36
NG_008434.1:g.269583_269586del

Transcript Alleles

HGVS Amino-acid change
ENST00000395925.8:c.2003_2006del MANE Select ENSP00000379258.3:p.Pro668LeufsTer24
ENST00000677288.1:c.1829_1832del ENSP00000503986.1:p.Pro610LeufsTer24
ENST00000677605.1:c.2003_2006del ENSP00000503743.1:p.Pro668LeufsTer24
ENST00000678429.1:c.2003_2006del ENSP00000502957.1:p.Pro668LeufsTer24
ENST00000395925.7:c.2003_2006del ENSP00000379258.3:p.Pro668LeufsTer24
ENST00000479210.1:n.1980_1983del
NM_000168.5:c.2003_2006del NP_000159.3:p.Pro668LeufsTer24
XM_005249703.1:c.2003_2006del XP_005249760.1:p.Pro668LeufsTer24
XM_005249704.2:c.2003_2006del XP_005249761.1:p.Pro668LeufsTer24
XM_011515272.1:c.2003_2006del XP_011513574.1:p.Pro668LeufsTer24
XM_011515273.1:c.2003_2006del XP_011513575.1:p.Pro668LeufsTer24
XM_011515274.1:c.1826_1829del XP_011513576.1:p.Pro609LeufsTer24
XM_011515274.2:c.1826_1829del XP_011513576.1:p.Pro609LeufsTer24
XM_017011997.1:c.2000_2003del XP_016867486.1:p.Pro667LeufsTer24
NM_000168.6:c.2003_2006del MANE Select NP_000159.3:p.Pro668LeufsTer24