Canonical Allele Identifier: CA1702647764
Gene: GLI3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41972416_41972417delinsTC , CM000669.2:g.41972416_41972417delinsTC GRCh38
NC_000007.13:g.42012015_42012016delinsTC , CM000669.1:g.42012015_42012016delinsTC GRCh37
NC_000007.12:g.41978540_41978541delinsTC NCBI36
NG_008434.1:g.269603_269604delinsGA

Transcript Alleles

HGVS Amino-acid change
ENST00000395925.8:c.2023_2024delinsGA MANE Select ENSP00000379258.3:p.Glu675=
ENST00000677288.1:c.1849_1850delinsGA ENSP00000503986.1:p.Glu617=
ENST00000677605.1:c.2023_2024delinsGA ENSP00000503743.1:p.Glu675=
ENST00000678429.1:c.2023_2024delinsGA ENSP00000502957.1:p.Glu675=
ENST00000395925.7:c.2023_2024delinsGA ENSP00000379258.3:p.Glu675=
ENST00000479210.1:n.2000_2001delinsGA
NM_000168.5:c.2023_2024delinsGA NP_000159.3:p.Glu675=
XM_005249703.1:c.2023_2024delinsGA XP_005249760.1:p.Glu675=
XM_005249704.2:c.2023_2024delinsGA XP_005249761.1:p.Glu675=
XM_011515272.1:c.2023_2024delinsGA XP_011513574.1:p.Glu675=
XM_011515273.1:c.2023_2024delinsGA XP_011513575.1:p.Glu675=
XM_011515274.1:c.1846_1847delinsGA XP_011513576.1:p.Glu616=
XM_011515274.2:c.1846_1847delinsGA XP_011513576.1:p.Glu616=
XM_017011997.1:c.2020_2021delinsGA XP_016867486.1:p.Glu674=
NM_000168.6:c.2023_2024delinsGA MANE Select NP_000159.3:p.Glu675=