Canonical Allele Identifier: CA586127924
Gene: GLIS3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.3932129_3932146del , CM000671.2:g.3932129_3932146del GRCh38
NC_000009.11:g.3932129_3932146del , CM000671.1:g.3932129_3932146del GRCh37
NC_000009.10:g.3922129_3922146del NCBI36
NG_011782.1:g.372891_372908del
NG_011782.2:g.372891_372908del

Transcript Alleles

HGVS Amino-acid Change
ENST00000463680.6:n.273+215_273+232del
ENST00000464391.2:n.541+215_541+232del
ENST00000491889.6:c.*1346+215_*1346+232del ENSP00000419914.1:n.*1346+215_*1346+232del
ENST00000645252.2:n.425+215_425+232del
ENST00000682749.1:c.1518+215_1518+232del ENSP00000507306.1:n.1518+215_1518+232del
ENST00000682846.1:c.132-102653_132-102636del ENSP00000507527.1:n.132-102653_132-102636del
ENST00000682864.1:n.482+215_482+232del
ENST00000381971.8:c.1983+215_1983+232del MANE Select ENSP00000371398.3:n.1983+215_1983+232del
ENST00000645252.1:n.425+215_425+232del
ENST00000324333.14:c.1518+215_1518+232del ENSP00000325494.10:n.1518+215_1518+232del
ENST00000381971.7:c.1983+215_1983+232del ENSP00000371398.3:n.1983+215_1983+232del
ENST00000461870.5:n.339+215_339+232del
ENST00000463680.5:n.273+215_273+232del
ENST00000467497.6:n.523+215_523+232del
NM_001042413.1:c.1983+215_1983+232del NP_001035878.1:n.1983+215_1983+232del
NM_152629.3:c.1518+215_1518+232del NP_689842.3:n.1518+215_1518+232del
XM_005251386.3:c.1518+215_1518+232del XP_005251443.1:n.1518+215_1518+232del
XM_005251387.3:c.1317+215_1317+232del XP_005251444.1:n.1317+215_1317+232del
XM_005251388.3:c.1317+215_1317+232del XP_005251445.1:n.1317+215_1317+232del
XM_011517763.1:c.1983+215_1983+232del XP_011516065.1:n.1983+215_1983+232del
XM_011517764.1:c.1983+215_1983+232del XP_011516066.1:n.1983+215_1983+232del
XM_011517765.1:c.1983+215_1983+232del XP_011516067.1:n.1983+215_1983+232del
XM_011517766.1:c.1518+215_1518+232del XP_011516068.1:n.1518+215_1518+232del
XM_011517767.1:c.1317+215_1317+232del XP_011516069.1:n.1317+215_1317+232del
XM_005251386.4:c.1518+215_1518+232del XP_005251443.1:n.1518+215_1518+232del
XM_005251387.4:c.1317+215_1317+232del XP_005251444.1:n.1317+215_1317+232del
XM_005251388.4:c.1317+215_1317+232del XP_005251445.1:n.1317+215_1317+232del
XM_011517763.2:c.1983+215_1983+232del XP_011516065.1:n.1983+215_1983+232del
XM_011517764.2:c.1983+215_1983+232del XP_011516066.1:n.1983+215_1983+232del
XM_011517765.2:c.1983+215_1983+232del XP_011516067.1:n.1983+215_1983+232del
XM_011517766.2:c.1518+215_1518+232del XP_011516068.1:n.1518+215_1518+232del
XM_011517767.3:c.1317+215_1317+232del XP_011516069.1:n.1317+215_1317+232del
XM_017014361.1:c.1518+215_1518+232del XP_016869850.1:n.1518+215_1518+232del
NM_001042413.2:c.1983+215_1983+232del MANE Select NP_001035878.1:n.1983+215_1983+232del
NM_152629.4:c.1518+215_1518+232del NP_689842.3:n.1518+215_1518+232del