Canonical Allele Identifier: CA354212
Gene: GLIS3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1325
ClinVar RCV Id: RCV000001388
dbSNP Id: rs869320723

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.3856148dup , CM000671.2:g.3856148dup GRCh38
NC_000009.11:g.3856148dup , CM000671.1:g.3856148dup GRCh37
NC_000009.10:g.3846148dup NCBI36
NG_011782.1:g.448892dup
NG_011782.2:g.448892dup

Transcript Alleles

HGVS Amino-acid change
ENST00000381971.8:c.2338dup MANE Select ENSP00000371398.3:p.Arg780ProfsTer?
ENST00000645252.1:n.780dup
ENST00000324333.14:c.1873dup ENSP00000325494.10:p.Arg625ProfsTer?
ENST00000381971.7:c.2338dup ENSP00000371398.3:p.Arg780ProfsTer?
ENST00000461870.5:n.694dup
ENST00000467497.6:n.878dup
NM_001042413.1:c.2338dup NP_001035878.1:p.Arg780ProfsTer?
NM_152629.3:c.1873dup NP_689842.3:p.Arg625ProfsTer?
XM_005251386.3:c.1873dup XP_005251443.1:p.Arg625ProfsTer?
XM_005251387.3:c.1672dup XP_005251444.1:p.Arg558ProfsTer?
XM_005251388.3:c.1672dup XP_005251445.1:p.Arg558ProfsTer?
XM_011517763.1:c.2338dup XP_011516065.1:p.Arg780ProfsTer?
XM_011517764.1:c.2338dup XP_011516066.1:p.Arg780ProfsTer?
XM_011517765.1:c.2338dup XP_011516067.1:p.Arg780ProfsTer?
XM_011517766.1:c.1873dup XP_011516068.1:p.Arg625ProfsTer?
XM_011517767.1:c.1672dup XP_011516069.1:p.Arg558ProfsTer?
XM_005251386.4:c.1873dup XP_005251443.1:p.Arg625ProfsTer?
XM_005251387.4:c.1672dup XP_005251444.1:p.Arg558ProfsTer?
XM_005251388.4:c.1672dup XP_005251445.1:p.Arg558ProfsTer?
XM_011517763.2:c.2338dup XP_011516065.1:p.Arg780ProfsTer?
XM_011517764.2:c.2338dup XP_011516066.1:p.Arg780ProfsTer?
XM_011517765.2:c.2338dup XP_011516067.1:p.Arg780ProfsTer?
XM_011517766.2:c.1873dup XP_011516068.1:p.Arg625ProfsTer?
XM_011517767.3:c.1672dup XP_011516069.1:p.Arg558ProfsTer?
XM_017014361.1:c.1873dup XP_016869850.1:p.Arg625ProfsTer?
NM_001042413.2:c.2338dup MANE Select NP_001035878.1:p.Arg780ProfsTer?
NM_152629.4:c.1873dup NP_689842.3:p.Arg625ProfsTer?