Canonical Allele Identifier: CA2695207655
Gene: GLI3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41972357_41972358delinsGGCTTCTCT , CM000669.2:g.41972357_41972358delinsGGCTTCTCT GRCh38
NC_000007.13:g.42011956_42011957delinsGGCTTCTCT , CM000669.1:g.42011956_42011957delinsGGCTTCTCT GRCh37
NC_000007.12:g.41978481_41978482delinsGGCTTCTCT NCBI36
NG_008434.1:g.269662_269663delinsAGAGAAGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.2082_2083delinsAGAGAAGCC MANE Select ENSP00000379258.3:p.Val695GlufsTer?
ENST00000677288.1:c.1908_1909delinsAGAGAAGCC ENSP00000503986.1:p.Val637GlufsTer?
ENST00000677605.1:c.2082_2083delinsAGAGAAGCC ENSP00000503743.1:p.Val695GlufsTer?
ENST00000678429.1:c.2082_2083delinsAGAGAAGCC ENSP00000502957.1:p.Val695GlufsTer?
ENST00000395925.7:c.2082_2083delinsAGAGAAGCC ENSP00000379258.3:p.Val695GlufsTer?
ENST00000479210.1:n.2059_2060delinsAGAGAAGCC
NM_000168.5:c.2082_2083delinsAGAGAAGCC NP_000159.3:p.Val695GlufsTer?
XM_005249703.1:c.2082_2083delinsAGAGAAGCC XP_005249760.1:p.Val695GlufsTer?
XM_005249704.2:c.2082_2083delinsAGAGAAGCC XP_005249761.1:p.Val695GlufsTer?
XM_011515272.1:c.2082_2083delinsAGAGAAGCC XP_011513574.1:p.Val695GlufsTer?
XM_011515273.1:c.2082_2083delinsAGAGAAGCC XP_011513575.1:p.Val695GlufsTer?
XM_011515274.1:c.1905_1906delinsAGAGAAGCC XP_011513576.1:p.Val636GlufsTer?
XM_011515274.2:c.1905_1906delinsAGAGAAGCC XP_011513576.1:p.Val636GlufsTer?
XM_017011997.1:c.2079_2080delinsAGAGAAGCC XP_016867486.1:p.Val694GlufsTer?
NM_000168.6:c.2082_2083delinsAGAGAAGCC MANE Select NP_000159.3:p.Val695GlufsTer?