Canonical Allele Identifier: CA1702659621
Gene: GLI3 HGNC NCBI

Linked Data

dbSNP Id: rs1787052681

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41963207_41963208del , CM000669.2:g.41963207_41963208del GRCh38
NC_000007.13:g.42002805_42002806del , CM000669.1:g.42002805_42002806del GRCh37
NC_000007.12:g.41969330_41969331del NCBI36
NG_008434.1:g.278813_278814del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.*1122_*1123del MANE Select ENSP00000379258.3:n.*1122_*1123del
ENST00000677288.1:c.*1122_*1123del ENSP00000503986.1:n.*1122_*1123del
ENST00000677605.1:c.*1122_*1123del ENSP00000503743.1:n.*1122_*1123del
ENST00000678429.1:c.*1122_*1123del ENSP00000502957.1:n.*1122_*1123del
ENST00000395925.7:c.*1122_*1123del ENSP00000379258.3:n.*1122_*1123del
NM_000168.5:c.*1122_*1123del NP_000159.3:n.*1122_*1123del
XM_005249703.1:c.*1122_*1123del XP_005249760.1:n.*1122_*1123del
XM_005249704.2:c.*1122_*1123del XP_005249761.1:n.*1122_*1123del
XM_011515272.1:c.*1122_*1123del XP_011513574.1:n.*1122_*1123del
XM_011515273.1:c.*1122_*1123del XP_011513575.1:n.*1122_*1123del
XM_011515274.1:c.*1122_*1123del XP_011513576.1:n.*1122_*1123del
NM_000168.6:c.*1122_*1123del MANE Select NP_000159.3:n.*1122_*1123del