Canonical Allele Identifier: CA2840406871
Gene: GLI3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41966400del , CM000669.2:g.41966400del GRCh38
NC_000007.13:g.42005998del , CM000669.1:g.42005998del GRCh37
NC_000007.12:g.41972523del NCBI36
NG_008434.1:g.275622del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.2674del MANE Select ENSP00000379258.3:p.Ala892ProfsTer?
ENST00000677288.1:c.2500del ENSP00000503986.1:p.Ala834ProfsTer?
ENST00000677605.1:c.2674del ENSP00000503743.1:p.Ala892ProfsTer?
ENST00000678429.1:c.2674del ENSP00000502957.1:p.Ala892ProfsTer?
ENST00000395925.7:c.2674del ENSP00000379258.3:p.Ala892ProfsTer?
ENST00000479210.1:n.2651del
NM_000168.5:c.2674del NP_000159.3:p.Ala892ProfsTer?
XM_005249703.1:c.2674del XP_005249760.1:p.Ala892ProfsTer?
XM_005249704.2:c.2674del XP_005249761.1:p.Ala892ProfsTer?
XM_011515272.1:c.2674del XP_011513574.1:p.Ala892ProfsTer?
XM_011515273.1:c.2674del XP_011513575.1:p.Ala892ProfsTer?
XM_011515274.1:c.2497del XP_011513576.1:p.Ala833ProfsTer?
XM_011515274.2:c.2497del XP_011513576.1:p.Ala833ProfsTer?
XM_017011997.1:c.2671del XP_016867486.1:p.Ala891ProfsTer?
NM_000168.6:c.2674del MANE Select NP_000159.3:p.Ala892ProfsTer?