Canonical Allele Identifier: CA2775168893
Gene: GLI3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41964082_41964088del , CM000669.2:g.41964082_41964088del GRCh38
NC_000007.13:g.42003680_42003686del , CM000669.1:g.42003680_42003686del GRCh37
NC_000007.12:g.41970205_41970211del NCBI36
NG_008434.1:g.277933_277939del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.*242_*248del MANE Select ENSP00000379258.3:n.*242_*248del
ENST00000677288.1:c.*242_*248del ENSP00000503986.1:n.*242_*248del
ENST00000677605.1:c.*242_*248del ENSP00000503743.1:n.*242_*248del
ENST00000678429.1:c.*242_*248del ENSP00000502957.1:n.*242_*248del
ENST00000395925.7:c.*242_*248del ENSP00000379258.3:n.*242_*248del
ENST00000479210.1:n.4962_4968del
NM_000168.5:c.*242_*248del NP_000159.3:n.*242_*248del
XM_005249703.1:c.*242_*248del XP_005249760.1:n.*242_*248del
XM_005249704.2:c.*242_*248del XP_005249761.1:n.*242_*248del
XM_011515272.1:c.*242_*248del XP_011513574.1:n.*242_*248del
XM_011515273.1:c.*242_*248del XP_011513575.1:n.*242_*248del
XM_011515274.1:c.*242_*248del XP_011513576.1:n.*242_*248del
NM_000168.6:c.*242_*248del MANE Select NP_000159.3:n.*242_*248del