Canonical Allele Identifier: CA2689273681
Gene: GLIS3 HGNC NCBI

Linked Data

gnomAD v4: 9-3856140-C-CT

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.3856141dup , CM000671.2:g.3856141dup GRCh38
NC_000009.11:g.3856141dup , CM000671.1:g.3856141dup GRCh37
NC_000009.10:g.3846141dup NCBI36
NG_011782.1:g.448895dup
NG_011782.2:g.448895dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000464391.2:n.899dup
ENST00000491889.6:c.*1704dup ENSP00000419914.1:n.*1704dup
ENST00000645252.2:n.783dup
ENST00000682749.1:c.1876dup ENSP00000507306.1:p.Arg626LysfsTer?
ENST00000682846.1:c.132-26649dup ENSP00000507527.1:n.132-26649dup
ENST00000682864.1:n.840dup
ENST00000381971.8:c.2341dup MANE Select ENSP00000371398.3:p.Arg781LysfsTer?
ENST00000645252.1:n.783dup
ENST00000324333.14:c.1876dup ENSP00000325494.10:p.Arg626LysfsTer?
ENST00000381971.7:c.2341dup ENSP00000371398.3:p.Arg781LysfsTer?
ENST00000461870.5:n.697dup
ENST00000467497.6:n.881dup
NM_001042413.1:c.2341dup NP_001035878.1:p.Arg781LysfsTer?
NM_152629.3:c.1876dup NP_689842.3:p.Arg626LysfsTer?
XM_005251386.3:c.1876dup XP_005251443.1:p.Arg626LysfsTer?
XM_005251387.3:c.1675dup XP_005251444.1:p.Arg559LysfsTer?
XM_005251388.3:c.1675dup XP_005251445.1:p.Arg559LysfsTer?
XM_011517763.1:c.2341dup XP_011516065.1:p.Arg781LysfsTer?
XM_011517764.1:c.2341dup XP_011516066.1:p.Arg781LysfsTer?
XM_011517765.1:c.2341dup XP_011516067.1:p.Arg781LysfsTer?
XM_011517766.1:c.1876dup XP_011516068.1:p.Arg626LysfsTer?
XM_011517767.1:c.1675dup XP_011516069.1:p.Arg559LysfsTer?
XM_005251386.4:c.1876dup XP_005251443.1:p.Arg626LysfsTer?
XM_005251387.4:c.1675dup XP_005251444.1:p.Arg559LysfsTer?
XM_005251388.4:c.1675dup XP_005251445.1:p.Arg559LysfsTer?
XM_011517763.2:c.2341dup XP_011516065.1:p.Arg781LysfsTer?
XM_011517764.2:c.2341dup XP_011516066.1:p.Arg781LysfsTer?
XM_011517765.2:c.2341dup XP_011516067.1:p.Arg781LysfsTer?
XM_011517766.2:c.1876dup XP_011516068.1:p.Arg626LysfsTer?
XM_011517767.3:c.1675dup XP_011516069.1:p.Arg559LysfsTer?
XM_017014361.1:c.1876dup XP_016869850.1:p.Arg626LysfsTer?
NM_001042413.2:c.2341dup MANE Select NP_001035878.1:p.Arg781LysfsTer?
NM_152629.4:c.1876dup NP_689842.3:p.Arg626LysfsTer?