Canonical Allele Identifier: CA1829088816

Gene: GLIS3

Linked Data

• dbSNP Id: rs1831798312
• gnomAD v4: 9-4117879-G-GTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4117883_4117885dup , CM000671.2:g.4117883_4117885dup	GRCh38
NC_000009.11:g.4117883_4117885dup , CM000671.1:g.4117883_4117885dup	GRCh37
NC_000009.10:g.4107883_4107885dup	NCBI36
NG_011782.1:g.187154_187156dup
NG_011782.2:g.187154_187156dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491889.6:c.*959_*961dup	ENSP00000419914.1:n.*959_*961dup
ENST00000645252.2:n.152+33058_152+33060dup
ENST00000682749.1:c.1131_1133dup	ENSP00000507306.1:p.Glu377_Asp378insGlu
ENST00000682846.1:c.131+7852_131+7854dup	ENSP00000507527.1:n.131+7852_131+7854dup
ENST00000381971.8:c.1596_1598dup MANE Select	ENSP00000371398.3:p.Glu532_Asp533insGlu
ENST00000645252.1:n.152+33058_152+33060dup
ENST00000324333.14:c.1131_1133dup	ENSP00000325494.10:p.Glu377_Asp378insGlu
ENST00000381971.7:c.1596_1598dup	ENSP00000371398.3:p.Glu532_Asp533insGlu
ENST00000467497.6:n.136_138dup
NM_001042413.1:c.1596_1598dup	NP_001035878.1:p.Glu532_Asp533insGlu
NM_152629.3:c.1131_1133dup	NP_689842.3:p.Glu377_Asp378insGlu
XM_005251386.3:c.1131_1133dup	XP_005251443.1:p.Glu377_Asp378insGlu
XM_005251387.3:c.930_932dup	XP_005251444.1:p.Glu310_Asp311insGlu
XM_005251388.3:c.930_932dup	XP_005251445.1:p.Glu310_Asp311insGlu
XM_005251389.3:c.1596_1598dup	XP_005251446.1:p.Glu532_Asp533insGlu
XM_006716731.2:c.1596_1598dup	XP_006716794.1:p.Glu532_Asp533insGlu
XM_011517763.1:c.1596_1598dup	XP_011516065.1:p.Glu532_Asp533insGlu
XM_011517764.1:c.1596_1598dup	XP_011516066.1:p.Glu532_Asp533insGlu
XM_011517765.1:c.1596_1598dup	XP_011516067.1:p.Glu532_Asp533insGlu
XM_011517766.1:c.1131_1133dup	XP_011516068.1:p.Glu377_Asp378insGlu
XM_011517767.1:c.930_932dup	XP_011516069.1:p.Glu310_Asp311insGlu
XM_011517768.1:c.1596_1598dup	XP_011516070.1:p.Glu532_Asp533insGlu
XM_011517769.1:c.1596_1598dup	XP_011516071.1:p.Glu532_Asp533insGlu
XR_929206.1:n.2362_2364dup
XM_005251386.4:c.1131_1133dup	XP_005251443.1:p.Glu377_Asp378insGlu
XM_005251387.4:c.930_932dup	XP_005251444.1:p.Glu310_Asp311insGlu
XM_005251388.4:c.930_932dup	XP_005251445.1:p.Glu310_Asp311insGlu
XM_005251389.5:c.1596_1598dup	XP_005251446.1:p.Glu532_Asp533insGlu
XM_006716731.3:c.1596_1598dup	XP_006716794.1:p.Glu532_Asp533insGlu
XM_011517763.2:c.1596_1598dup	XP_011516065.1:p.Glu532_Asp533insGlu
XM_011517764.2:c.1596_1598dup	XP_011516066.1:p.Glu532_Asp533insGlu
XM_011517765.2:c.1596_1598dup	XP_011516067.1:p.Glu532_Asp533insGlu
XM_011517766.2:c.1131_1133dup	XP_011516068.1:p.Glu377_Asp378insGlu
XM_011517767.3:c.930_932dup	XP_011516069.1:p.Glu310_Asp311insGlu
XM_011517769.2:c.1596_1598dup	XP_011516071.1:p.Glu532_Asp533insGlu
XM_017014361.1:c.1131_1133dup	XP_016869850.1:p.Glu377_Asp378insGlu
XR_929206.2:n.2358_2360dup
NM_001042413.2:c.1596_1598dup MANE Select	NP_001035878.1:p.Glu532_Asp533insGlu
NM_152629.4:c.1131_1133dup	NP_689842.3:p.Glu377_Asp378insGlu