Canonical Allele Identifier: CA2512295482
Gene: GLIS3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.3932462_3932463insAG , CM000671.2:g.3932462_3932463insAG GRCh38
NC_000009.11:g.3932462_3932463insAG , CM000671.1:g.3932462_3932463insAG GRCh37
NC_000009.10:g.3922462_3922463insAG NCBI36
NG_011782.1:g.372573_372574insCT
NG_011782.2:g.372573_372574insCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000463680.6:n.170_171insCT
ENST00000464391.2:n.438_439insCT
ENST00000491889.6:c.*1243_*1244insCT ENSP00000419914.1:n.*1243_*1244insCT
ENST00000645252.2:n.322_323insCT
ENST00000682749.1:c.1415_1416insCT ENSP00000507306.1:p.Ala473LeufsTer18
ENST00000682846.1:c.132-102971_132-102970insCT ENSP00000507527.1:n.132-102971_132-102970insCT
ENST00000682864.1:n.397-18_397-17insCT
ENST00000381971.8:c.1880_1881insCT MANE Select ENSP00000371398.3:p.Ala628LeufsTer18
ENST00000645252.1:n.322_323insCT
ENST00000324333.14:c.1415_1416insCT ENSP00000325494.10:p.Ala473LeufsTer18
ENST00000381971.7:c.1880_1881insCT ENSP00000371398.3:p.Ala628LeufsTer18
ENST00000461870.5:n.236_237insCT
ENST00000463680.5:n.170_171insCT
ENST00000464391.1:n.428_429insCT
ENST00000467497.6:n.420_421insCT
NM_001042413.1:c.1880_1881insCT NP_001035878.1:p.Ala628LeufsTer18
NM_152629.3:c.1415_1416insCT NP_689842.3:p.Ala473LeufsTer18
XM_005251386.3:c.1415_1416insCT XP_005251443.1:p.Ala473LeufsTer18
XM_005251387.3:c.1214_1215insCT XP_005251444.1:p.Ala406LeufsTer18
XM_005251388.3:c.1214_1215insCT XP_005251445.1:p.Ala406LeufsTer18
XM_011517763.1:c.1880_1881insCT XP_011516065.1:p.Ala628LeufsTer18
XM_011517764.1:c.1880_1881insCT XP_011516066.1:p.Ala628LeufsTer18
XM_011517765.1:c.1880_1881insCT XP_011516067.1:p.Ala628LeufsTer18
XM_011517766.1:c.1415_1416insCT XP_011516068.1:p.Ala473LeufsTer18
XM_011517767.1:c.1214_1215insCT XP_011516069.1:p.Ala406LeufsTer18
XM_005251386.4:c.1415_1416insCT XP_005251443.1:p.Ala473LeufsTer18
XM_005251387.4:c.1214_1215insCT XP_005251444.1:p.Ala406LeufsTer18
XM_005251388.4:c.1214_1215insCT XP_005251445.1:p.Ala406LeufsTer18
XM_011517763.2:c.1880_1881insCT XP_011516065.1:p.Ala628LeufsTer18
XM_011517764.2:c.1880_1881insCT XP_011516066.1:p.Ala628LeufsTer18
XM_011517765.2:c.1880_1881insCT XP_011516067.1:p.Ala628LeufsTer18
XM_011517766.2:c.1415_1416insCT XP_011516068.1:p.Ala473LeufsTer18
XM_011517767.3:c.1214_1215insCT XP_011516069.1:p.Ala406LeufsTer18
XM_017014361.1:c.1415_1416insCT XP_016869850.1:p.Ala473LeufsTer18
NM_001042413.2:c.1880_1881insCT MANE Select NP_001035878.1:p.Ala628LeufsTer18
NM_152629.4:c.1415_1416insCT NP_689842.3:p.Ala473LeufsTer18