Canonical Allele Identifier: CA1120649699
Gene: GLIS3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.3855928_3855930del , CM000671.2:g.3855928_3855930del GRCh38
NC_000009.11:g.3855928_3855930del , CM000671.1:g.3855928_3855930del GRCh37
NC_000009.10:g.3845928_3845930del NCBI36
NG_011782.1:g.449106_449108del
NG_011782.2:g.449106_449108del

Transcript Alleles

HGVS Amino-acid Change
ENST00000464391.2:n.1110_1112del
ENST00000491889.6:c.*1836+79_*1836+81del ENSP00000419914.1:n.*1836+79_*1836+81del
ENST00000645252.2:n.915+79_915+81del
ENST00000682749.1:c.2008+79_2008+81del ENSP00000507306.1:n.2008+79_2008+81del
ENST00000682846.1:c.132-26438_132-26436del ENSP00000507527.1:n.132-26438_132-26436del
ENST00000682864.1:n.972+79_972+81del
ENST00000381971.8:c.2473+79_2473+81del MANE Select ENSP00000371398.3:n.2473+79_2473+81del
ENST00000645252.1:n.915+79_915+81del
ENST00000324333.14:c.2008+79_2008+81del ENSP00000325494.10:n.2008+79_2008+81del
ENST00000381971.7:c.2473+79_2473+81del ENSP00000371398.3:n.2473+79_2473+81del
ENST00000461870.5:n.829+79_829+81del
ENST00000467497.6:n.1092_1094del
NM_001042413.1:c.2473+79_2473+81del NP_001035878.1:n.2473+79_2473+81del
NM_152629.3:c.2008+79_2008+81del NP_689842.3:n.2008+79_2008+81del
XM_005251386.3:c.2008+79_2008+81del XP_005251443.1:n.2008+79_2008+81del
XM_005251387.3:c.1807+79_1807+81del XP_005251444.1:n.1807+79_1807+81del
XM_005251388.3:c.1807+79_1807+81del XP_005251445.1:n.1807+79_1807+81del
XM_011517763.1:c.2473+79_2473+81del XP_011516065.1:n.2473+79_2473+81del
XM_011517764.1:c.2473+79_2473+81del XP_011516066.1:n.2473+79_2473+81del
XM_011517765.1:c.2473+79_2473+81del XP_011516067.1:n.2473+79_2473+81del
XM_011517766.1:c.2008+79_2008+81del XP_011516068.1:n.2008+79_2008+81del
XM_011517767.1:c.1807+79_1807+81del XP_011516069.1:n.1807+79_1807+81del
XM_005251386.4:c.2008+79_2008+81del XP_005251443.1:n.2008+79_2008+81del
XM_005251387.4:c.1807+79_1807+81del XP_005251444.1:n.1807+79_1807+81del
XM_005251388.4:c.1807+79_1807+81del XP_005251445.1:n.1807+79_1807+81del
XM_011517763.2:c.2473+79_2473+81del XP_011516065.1:n.2473+79_2473+81del
XM_011517764.2:c.2473+79_2473+81del XP_011516066.1:n.2473+79_2473+81del
XM_011517765.2:c.2473+79_2473+81del XP_011516067.1:n.2473+79_2473+81del
XM_011517766.2:c.2008+79_2008+81del XP_011516068.1:n.2008+79_2008+81del
XM_011517767.3:c.1807+79_1807+81del XP_011516069.1:n.1807+79_1807+81del
XM_017014361.1:c.2008+79_2008+81del XP_016869850.1:n.2008+79_2008+81del
NM_001042413.2:c.2473+79_2473+81del MANE Select NP_001035878.1:n.2473+79_2473+81del
NM_152629.4:c.2008+79_2008+81del NP_689842.3:n.2008+79_2008+81del