Canonical Allele Identifier: CA1829091262
Gene: GLIS3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.4118725_4118734delinsGAGATCCCCT , CM000671.2:g.4118725_4118734delinsGAGATCCCCT GRCh38
NC_000009.11:g.4118725_4118734delinsGAGATCCCCT , CM000671.1:g.4118725_4118734delinsGAGATCCCCT GRCh37
NC_000009.10:g.4108725_4108734delinsGAGATCCCCT NCBI36
NG_011782.1:g.186302_186311delinsAGGGGATCTC
NG_011782.2:g.186302_186311delinsAGGGGATCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000491889.6:c.*107_*116delinsAGGGGATCTC ENSP00000419914.1:n.*107_*116delinsAGGGGATCTC
ENST00000645252.2:n.152+32206_152+32215delinsAGGGGATCTC
ENST00000682749.1:c.279_288delinsAGGGGATCTC ENSP00000507306.1:p.Leu93=
ENST00000682846.1:c.131+7000_131+7009delinsAGGGGATCTC ENSP00000507527.1:n.131+7000_131+7009delinsAGGGGATCTC
ENST00000381971.8:c.744_753delinsAGGGGATCTC MANE Select ENSP00000371398.3:p.Leu248=
ENST00000645252.1:n.152+32206_152+32215delinsAGGGGATCTC
ENST00000324333.14:c.279_288delinsAGGGGATCTC ENSP00000325494.10:p.Leu93=
ENST00000381971.7:c.744_753delinsAGGGGATCTC ENSP00000371398.3:p.Leu248=
ENST00000490709.1:n.564_573delinsAGGGGATCTC
NM_001042413.1:c.744_753delinsAGGGGATCTC NP_001035878.1:p.Leu248=
NM_152629.3:c.279_288delinsAGGGGATCTC NP_689842.3:p.Leu93=
XM_005251386.3:c.279_288delinsAGGGGATCTC XP_005251443.1:p.Leu93=
XM_005251387.3:c.78_87delinsAGGGGATCTC XP_005251444.1:p.Leu26=
XM_005251388.3:c.78_87delinsAGGGGATCTC XP_005251445.1:p.Leu26=
XM_005251389.3:c.744_753delinsAGGGGATCTC XP_005251446.1:p.Leu248=
XM_006716731.2:c.744_753delinsAGGGGATCTC XP_006716794.1:p.Leu248=
XM_011517763.1:c.744_753delinsAGGGGATCTC XP_011516065.1:p.Leu248=
XM_011517764.1:c.744_753delinsAGGGGATCTC XP_011516066.1:p.Leu248=
XM_011517765.1:c.744_753delinsAGGGGATCTC XP_011516067.1:p.Leu248=
XM_011517766.1:c.279_288delinsAGGGGATCTC XP_011516068.1:p.Leu93=
XM_011517767.1:c.78_87delinsAGGGGATCTC XP_011516069.1:p.Leu26=
XM_011517768.1:c.744_753delinsAGGGGATCTC XP_011516070.1:p.Leu248=
XM_011517769.1:c.744_753delinsAGGGGATCTC XP_011516071.1:p.Leu248=
XR_929206.1:n.1510_1519delinsAGGGGATCTC
XM_005251386.4:c.279_288delinsAGGGGATCTC XP_005251443.1:p.Leu93=
XM_005251387.4:c.78_87delinsAGGGGATCTC XP_005251444.1:p.Leu26=
XM_005251388.4:c.78_87delinsAGGGGATCTC XP_005251445.1:p.Leu26=
XM_005251389.5:c.744_753delinsAGGGGATCTC XP_005251446.1:p.Leu248=
XM_006716731.3:c.744_753delinsAGGGGATCTC XP_006716794.1:p.Leu248=
XM_011517763.2:c.744_753delinsAGGGGATCTC XP_011516065.1:p.Leu248=
XM_011517764.2:c.744_753delinsAGGGGATCTC XP_011516066.1:p.Leu248=
XM_011517765.2:c.744_753delinsAGGGGATCTC XP_011516067.1:p.Leu248=
XM_011517766.2:c.279_288delinsAGGGGATCTC XP_011516068.1:p.Leu93=
XM_011517767.3:c.78_87delinsAGGGGATCTC XP_011516069.1:p.Leu26=
XM_011517769.2:c.744_753delinsAGGGGATCTC XP_011516071.1:p.Leu248=
XM_017014361.1:c.279_288delinsAGGGGATCTC XP_016869850.1:p.Leu93=
XR_929206.2:n.1506_1515delinsAGGGGATCTC
NM_001042413.2:c.744_753delinsAGGGGATCTC MANE Select NP_001035878.1:p.Leu248=
NM_152629.4:c.279_288delinsAGGGGATCTC NP_689842.3:p.Leu93=