Canonical Allele Identifier: CA586168870
Gene: GLIS3 HGNC NCBI

Linked Data

dbSNP Id: rs1489592127
gnomAD v2: 9-4118729-T-TC
gnomAD v3: 9-4118729-T-TC
gnomAD v4: 9-4118729-T-TC

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.4118733dup , CM000671.2:g.4118733dup GRCh38
NC_000009.11:g.4118733dup , CM000671.1:g.4118733dup GRCh37
NC_000009.10:g.4108733dup NCBI36
NG_011782.1:g.186306dup
NG_011782.2:g.186306dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000491889.6:c.*111dup ENSP00000419914.1:n.*111dup
ENST00000645252.2:n.152+32210dup
ENST00000682749.1:c.283dup ENSP00000507306.1:p.Asp95GlyfsTer4
ENST00000682846.1:c.131+7004dup ENSP00000507527.1:n.131+7004dup
ENST00000381971.8:c.748dup MANE Select ENSP00000371398.3:p.Asp250GlyfsTer4
ENST00000645252.1:n.152+32210dup
ENST00000324333.14:c.283dup ENSP00000325494.10:p.Asp95GlyfsTer4
ENST00000381971.7:c.748dup ENSP00000371398.3:p.Asp250GlyfsTer4
ENST00000490709.1:n.568dup
NM_001042413.1:c.748dup NP_001035878.1:p.Asp250GlyfsTer4
NM_152629.3:c.283dup NP_689842.3:p.Asp95GlyfsTer4
XM_005251386.3:c.283dup XP_005251443.1:p.Asp95GlyfsTer4
XM_005251387.3:c.82dup XP_005251444.1:p.Asp28GlyfsTer4
XM_005251388.3:c.82dup XP_005251445.1:p.Asp28GlyfsTer4
XM_005251389.3:c.748dup XP_005251446.1:p.Asp250GlyfsTer4
XM_006716731.2:c.748dup XP_006716794.1:p.Asp250GlyfsTer4
XM_011517763.1:c.748dup XP_011516065.1:p.Asp250GlyfsTer4
XM_011517764.1:c.748dup XP_011516066.1:p.Asp250GlyfsTer4
XM_011517765.1:c.748dup XP_011516067.1:p.Asp250GlyfsTer4
XM_011517766.1:c.283dup XP_011516068.1:p.Asp95GlyfsTer4
XM_011517767.1:c.82dup XP_011516069.1:p.Asp28GlyfsTer4
XM_011517768.1:c.748dup XP_011516070.1:p.Asp250GlyfsTer4
XM_011517769.1:c.748dup XP_011516071.1:p.Asp250GlyfsTer4
XR_929206.1:n.1514dup
XM_005251386.4:c.283dup XP_005251443.1:p.Asp95GlyfsTer4
XM_005251387.4:c.82dup XP_005251444.1:p.Asp28GlyfsTer4
XM_005251388.4:c.82dup XP_005251445.1:p.Asp28GlyfsTer4
XM_005251389.5:c.748dup XP_005251446.1:p.Asp250GlyfsTer4
XM_006716731.3:c.748dup XP_006716794.1:p.Asp250GlyfsTer4
XM_011517763.2:c.748dup XP_011516065.1:p.Asp250GlyfsTer4
XM_011517764.2:c.748dup XP_011516066.1:p.Asp250GlyfsTer4
XM_011517765.2:c.748dup XP_011516067.1:p.Asp250GlyfsTer4
XM_011517766.2:c.283dup XP_011516068.1:p.Asp95GlyfsTer4
XM_011517767.3:c.82dup XP_011516069.1:p.Asp28GlyfsTer4
XM_011517769.2:c.748dup XP_011516071.1:p.Asp250GlyfsTer4
XM_017014361.1:c.283dup XP_016869850.1:p.Asp95GlyfsTer4
XR_929206.2:n.1510dup
NM_001042413.2:c.748dup MANE Select NP_001035878.1:p.Asp250GlyfsTer4
NM_152629.4:c.283dup NP_689842.3:p.Asp95GlyfsTer4