Canonical Allele Identifier: CA2689278626

Gene: GLIS3

Linked Data

• gnomAD v4: 9-4117686-GGGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4117688_4117691del , CM000671.2:g.4117688_4117691del	GRCh38
NC_000009.11:g.4117688_4117691del , CM000671.1:g.4117688_4117691del	GRCh37
NC_000009.10:g.4107688_4107691del	NCBI36
NG_011782.1:g.187346_187349del
NG_011782.2:g.187346_187349del

Transcript Alleles

HGVS	Amino-acid change
ENST00000491889.6:c.*1073+78_*1073+81del	ENSP00000419914.1:n.*1073+78_*1073+81del
ENST00000645252.2:n.152+33250_152+33253del
ENST00000682749.1:c.1245+78_1245+81del	ENSP00000507306.1:n.1245+78_1245+81del
ENST00000682846.1:c.131+8044_131+8047del	ENSP00000507527.1:n.131+8044_131+8047del
ENST00000381971.8:c.1710+78_1710+81del MANE Select	ENSP00000371398.3:n.1710+78_1710+81del
ENST00000645252.1:n.152+33250_152+33253del
ENST00000324333.14:c.1245+78_1245+81del	ENSP00000325494.10:n.1245+78_1245+81del
ENST00000381971.7:c.1710+78_1710+81del	ENSP00000371398.3:n.1710+78_1710+81del
ENST00000467497.6:n.250+78_250+81del
NM_001042413.1:c.1710+78_1710+81del	NP_001035878.1:n.1710+78_1710+81del
NM_152629.3:c.1245+78_1245+81del	NP_689842.3:n.1245+78_1245+81del
XM_005251386.3:c.1245+78_1245+81del	XP_005251443.1:n.1245+78_1245+81del
XM_005251387.3:c.1044+78_1044+81del	XP_005251444.1:n.1044+78_1044+81del
XM_005251388.3:c.1044+78_1044+81del	XP_005251445.1:n.1044+78_1044+81del
XM_005251389.3:c.1710+78_1710+81del	XP_005251446.1:n.1710+78_1710+81del
XM_006716731.2:c.1710+78_1710+81del	XP_006716794.1:n.1710+78_1710+81del
XM_011517763.1:c.1710+78_1710+81del	XP_011516065.1:n.1710+78_1710+81del
XM_011517764.1:c.1710+78_1710+81del	XP_011516066.1:n.1710+78_1710+81del
XM_011517765.1:c.1710+78_1710+81del	XP_011516067.1:n.1710+78_1710+81del
XM_011517766.1:c.1245+78_1245+81del	XP_011516068.1:n.1245+78_1245+81del
XM_011517767.1:c.1044+78_1044+81del	XP_011516069.1:n.1044+78_1044+81del
XM_011517768.1:c.1710+78_1710+81del	XP_011516070.1:n.1710+78_1710+81del
XM_011517769.1:c.1710+78_1710+81del	XP_011516071.1:n.1710+78_1710+81del
XR_929206.1:n.2476+78_2476+81del
XM_005251386.4:c.1245+78_1245+81del	XP_005251443.1:n.1245+78_1245+81del
XM_005251387.4:c.1044+78_1044+81del	XP_005251444.1:n.1044+78_1044+81del
XM_005251388.4:c.1044+78_1044+81del	XP_005251445.1:n.1044+78_1044+81del
XM_005251389.5:c.1710+78_1710+81del	XP_005251446.1:n.1710+78_1710+81del
XM_006716731.3:c.1710+78_1710+81del	XP_006716794.1:n.1710+78_1710+81del
XM_011517763.2:c.1710+78_1710+81del	XP_011516065.1:n.1710+78_1710+81del
XM_011517764.2:c.1710+78_1710+81del	XP_011516066.1:n.1710+78_1710+81del
XM_011517765.2:c.1710+78_1710+81del	XP_011516067.1:n.1710+78_1710+81del
XM_011517766.2:c.1245+78_1245+81del	XP_011516068.1:n.1245+78_1245+81del
XM_011517767.3:c.1044+78_1044+81del	XP_011516069.1:n.1044+78_1044+81del
XM_011517769.2:c.1710+78_1710+81del	XP_011516071.1:n.1710+78_1710+81del
XM_017014361.1:c.1245+78_1245+81del	XP_016869850.1:n.1245+78_1245+81del
XR_929206.2:n.2472+78_2472+81del
NM_001042413.2:c.1710+78_1710+81del MANE Select	NP_001035878.1:n.1710+78_1710+81del
NM_152629.4:c.1245+78_1245+81del	NP_689842.3:n.1245+78_1245+81del