Canonical Allele Identifier: CA586127933
Gene: GLIS3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.3932157_3932158del , CM000671.2:g.3932157_3932158del GRCh38
NC_000009.11:g.3932157_3932158del , CM000671.1:g.3932157_3932158del GRCh37
NC_000009.10:g.3922157_3922158del NCBI36
NG_011782.1:g.372878_372879del
NG_011782.2:g.372878_372879del

Transcript Alleles

HGVS Amino-acid Change
ENST00000463680.6:n.273+202_273+203del
ENST00000464391.2:n.541+202_541+203del
ENST00000491889.6:c.*1346+202_*1346+203del ENSP00000419914.1:n.*1346+202_*1346+203del
ENST00000645252.2:n.425+202_425+203del
ENST00000682749.1:c.1518+202_1518+203del ENSP00000507306.1:n.1518+202_1518+203del
ENST00000682846.1:c.132-102666_132-102665del ENSP00000507527.1:n.132-102666_132-102665del
ENST00000682864.1:n.482+202_482+203del
ENST00000381971.8:c.1983+202_1983+203del MANE Select ENSP00000371398.3:n.1983+202_1983+203del
ENST00000645252.1:n.425+202_425+203del
ENST00000324333.14:c.1518+202_1518+203del ENSP00000325494.10:n.1518+202_1518+203del
ENST00000381971.7:c.1983+202_1983+203del ENSP00000371398.3:n.1983+202_1983+203del
ENST00000461870.5:n.339+202_339+203del
ENST00000463680.5:n.273+202_273+203del
ENST00000467497.6:n.523+202_523+203del
NM_001042413.1:c.1983+202_1983+203del NP_001035878.1:n.1983+202_1983+203del
NM_152629.3:c.1518+202_1518+203del NP_689842.3:n.1518+202_1518+203del
XM_005251386.3:c.1518+202_1518+203del XP_005251443.1:n.1518+202_1518+203del
XM_005251387.3:c.1317+202_1317+203del XP_005251444.1:n.1317+202_1317+203del
XM_005251388.3:c.1317+202_1317+203del XP_005251445.1:n.1317+202_1317+203del
XM_011517763.1:c.1983+202_1983+203del XP_011516065.1:n.1983+202_1983+203del
XM_011517764.1:c.1983+202_1983+203del XP_011516066.1:n.1983+202_1983+203del
XM_011517765.1:c.1983+202_1983+203del XP_011516067.1:n.1983+202_1983+203del
XM_011517766.1:c.1518+202_1518+203del XP_011516068.1:n.1518+202_1518+203del
XM_011517767.1:c.1317+202_1317+203del XP_011516069.1:n.1317+202_1317+203del
XM_005251386.4:c.1518+202_1518+203del XP_005251443.1:n.1518+202_1518+203del
XM_005251387.4:c.1317+202_1317+203del XP_005251444.1:n.1317+202_1317+203del
XM_005251388.4:c.1317+202_1317+203del XP_005251445.1:n.1317+202_1317+203del
XM_011517763.2:c.1983+202_1983+203del XP_011516065.1:n.1983+202_1983+203del
XM_011517764.2:c.1983+202_1983+203del XP_011516066.1:n.1983+202_1983+203del
XM_011517765.2:c.1983+202_1983+203del XP_011516067.1:n.1983+202_1983+203del
XM_011517766.2:c.1518+202_1518+203del XP_011516068.1:n.1518+202_1518+203del
XM_011517767.3:c.1317+202_1317+203del XP_011516069.1:n.1317+202_1317+203del
XM_017014361.1:c.1518+202_1518+203del XP_016869850.1:n.1518+202_1518+203del
NM_001042413.2:c.1983+202_1983+203del MANE Select NP_001035878.1:n.1983+202_1983+203del
NM_152629.4:c.1518+202_1518+203del NP_689842.3:n.1518+202_1518+203del