Canonical Allele Identifier: CA2682510165
Gene: GLI3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41966309_41966311del , CM000669.2:g.41966309_41966311del GRCh38
NC_000007.13:g.42005907_42005909del , CM000669.1:g.42005907_42005909del GRCh37
NC_000007.12:g.41972432_41972434del NCBI36
NG_008434.1:g.275710_275712del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.2762_2764del MANE Select ENSP00000379258.3:p.Leu921_Thr922delinsPro
ENST00000677288.1:c.2588_2590del ENSP00000503986.1:p.Leu863_Thr864delinsPro
ENST00000677605.1:c.2762_2764del ENSP00000503743.1:p.Leu921_Thr922delinsPro
ENST00000678429.1:c.2762_2764del ENSP00000502957.1:p.Leu921_Thr922delinsPro
ENST00000395925.7:c.2762_2764del ENSP00000379258.3:p.Leu921_Thr922delinsPro
ENST00000479210.1:n.2739_2741del
NM_000168.5:c.2762_2764del NP_000159.3:p.Leu921_Thr922delinsPro
XM_005249703.1:c.2762_2764del XP_005249760.1:p.Leu921_Thr922delinsPro
XM_005249704.2:c.2762_2764del XP_005249761.1:p.Leu921_Thr922delinsPro
XM_011515272.1:c.2762_2764del XP_011513574.1:p.Leu921_Thr922delinsPro
XM_011515273.1:c.2762_2764del XP_011513575.1:p.Leu921_Thr922delinsPro
XM_011515274.1:c.2585_2587del XP_011513576.1:p.Leu862_Thr863delinsPro
XM_011515274.2:c.2585_2587del XP_011513576.1:p.Leu862_Thr863delinsPro
XM_017011997.1:c.2759_2761del XP_016867486.1:p.Leu920_Thr921delinsPro
NM_000168.6:c.2762_2764del MANE Select NP_000159.3:p.Leu921_Thr922delinsPro