Canonical Allele Identifier: CA2775183332
Gene: GLI3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41962583_41962584del , CM000669.2:g.41962583_41962584del GRCh38
NC_000007.13:g.42002181_42002182del , CM000669.1:g.42002181_42002182del GRCh37
NC_000007.12:g.41968706_41968707del NCBI36
NG_008434.1:g.279437_279438del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.*1746_*1747del MANE Select ENSP00000379258.3:n.*1746_*1747del
ENST00000677288.1:c.*1746_*1747del ENSP00000503986.1:n.*1746_*1747del
ENST00000677605.1:c.*1746_*1747del ENSP00000503743.1:n.*1746_*1747del
ENST00000678429.1:c.*1746_*1747del ENSP00000502957.1:n.*1746_*1747del
ENST00000395925.7:c.*1746_*1747del ENSP00000379258.3:n.*1746_*1747del
NM_000168.5:c.*1746_*1747del NP_000159.3:n.*1746_*1747del
XM_005249703.1:c.*1746_*1747del XP_005249760.1:n.*1746_*1747del
XM_005249704.2:c.*1746_*1747del XP_005249761.1:n.*1746_*1747del
XM_011515272.1:c.*1746_*1747del XP_011513574.1:n.*1746_*1747del
XM_011515273.1:c.*1746_*1747del XP_011513575.1:n.*1746_*1747del
XM_011515274.1:c.*1746_*1747del XP_011513576.1:n.*1746_*1747del
NM_000168.6:c.*1746_*1747del MANE Select NP_000159.3:n.*1746_*1747del