Canonical Allele Identifier: CA645566065
Gene: GLI3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41966095_41966101del , CM000669.2:g.41966095_41966101del GRCh38
NC_000007.13:g.42005693_42005699del , CM000669.1:g.42005693_42005699del GRCh37
NC_000007.12:g.41972218_41972224del NCBI36
NG_008434.1:g.275920_275926del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.2972_2978del MANE Select ENSP00000379258.3:p.His991ArgfsTer10
ENST00000677288.1:c.2798_2804del ENSP00000503986.1:p.His933ArgfsTer10
ENST00000677605.1:c.2972_2978del ENSP00000503743.1:p.His991ArgfsTer10
ENST00000678429.1:c.2972_2978del ENSP00000502957.1:p.His991ArgfsTer10
ENST00000395925.7:c.2972_2978del ENSP00000379258.3:p.His991ArgfsTer10
ENST00000479210.1:n.2949_2955del
NM_000168.5:c.2972_2978del NP_000159.3:p.His991ArgfsTer10
XM_005249703.1:c.2972_2978del XP_005249760.1:p.His991ArgfsTer10
XM_005249704.2:c.2972_2978del XP_005249761.1:p.His991ArgfsTer10
XM_011515272.1:c.2972_2978del XP_011513574.1:p.His991ArgfsTer10
XM_011515273.1:c.2972_2978del XP_011513575.1:p.His991ArgfsTer10
XM_011515274.1:c.2795_2801del XP_011513576.1:p.His932ArgfsTer10
XM_011515274.2:c.2795_2801del XP_011513576.1:p.His932ArgfsTer10
XM_017011997.1:c.2969_2975del XP_016867486.1:p.His990ArgfsTer10
NM_000168.6:c.2972_2978del MANE Select NP_000159.3:p.His991ArgfsTer10