Canonical Allele Identifier: CA917990642
Gene: GLI3 HGNC NCBI

Linked Data

dbSNP Id: rs1583731696

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41966197_41966201del , CM000669.2:g.41966197_41966201del GRCh38
NC_000007.13:g.42005795_42005799del , CM000669.1:g.42005795_42005799del GRCh37
NC_000007.12:g.41972320_41972324del NCBI36
NG_008434.1:g.275822_275826del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.2874_2878del MANE Select ENSP00000379258.3:p.Leu959ArgfsTer?
ENST00000677288.1:c.2700_2704del ENSP00000503986.1:p.Leu901ArgfsTer?
ENST00000677605.1:c.2874_2878del ENSP00000503743.1:p.Leu959ArgfsTer?
ENST00000678429.1:c.2874_2878del ENSP00000502957.1:p.Leu959ArgfsTer?
ENST00000395925.7:c.2874_2878del ENSP00000379258.3:p.Leu959ArgfsTer?
ENST00000479210.1:n.2851_2855del
NM_000168.5:c.2874_2878del NP_000159.3:p.Leu959ArgfsTer?
XM_005249703.1:c.2874_2878del XP_005249760.1:p.Leu959ArgfsTer?
XM_005249704.2:c.2874_2878del XP_005249761.1:p.Leu959ArgfsTer?
XM_011515272.1:c.2874_2878del XP_011513574.1:p.Leu959ArgfsTer?
XM_011515273.1:c.2874_2878del XP_011513575.1:p.Leu959ArgfsTer?
XM_011515274.1:c.2697_2701del XP_011513576.1:p.Leu900ArgfsTer?
XM_011515274.2:c.2697_2701del XP_011513576.1:p.Leu900ArgfsTer?
XM_017011997.1:c.2871_2875del XP_016867486.1:p.Leu958ArgfsTer?
NM_000168.6:c.2874_2878del MANE Select NP_000159.3:p.Leu959ArgfsTer?