Canonical Allele Identifier: CA2782720728

Gene: GLIS3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4118790_4118807dup , CM000671.2:g.4118790_4118807dup	GRCh38
NC_000009.11:g.4118790_4118807dup , CM000671.1:g.4118790_4118807dup	GRCh37
NC_000009.10:g.4108790_4108807dup	NCBI36
NG_011782.1:g.186229_186246dup
NG_011782.2:g.186229_186246dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491889.6:c.*34_*51dup	ENSP00000419914.1:n.*34_*51dup
ENST00000645252.2:n.152+32133_152+32150dup
ENST00000682749.1:c.206_223dup	ENSP00000507306.1:p.Gln74_Gly75insGluGlnGluTrpSerGln
ENST00000682846.1:c.131+6927_131+6944dup	ENSP00000507527.1:n.131+6927_131+6944dup
ENST00000381971.8:c.671_688dup MANE Select	ENSP00000371398.3:p.Gln229_Gly230insGluGlnGluTrpSerGln
ENST00000645252.1:n.152+32133_152+32150dup
ENST00000324333.14:c.206_223dup	ENSP00000325494.10:p.Gln74_Gly75insGluGlnGluTrpSerGln
ENST00000381971.7:c.671_688dup	ENSP00000371398.3:p.Gln229_Gly230insGluGlnGluTrpSerGln
ENST00000462164.5:c.206_223dup	ENSP00000418671.1:p.Gln74_Gly75insGluGlnGluTrpSerGln
ENST00000473846.5:n.430_447dup
ENST00000477901.5:c.671_688dup	ENSP00000417794.1:p.Gln229_Gly230insGluGlnGluTrpSerGln
ENST00000478315.5:c.206_223dup	ENSP00000418995.1:p.Gln74_Gly75insGluGlnGluTrpSerGln
ENST00000478844.5:c.206_223dup	ENSP00000418005.1:p.Gln74_Gly75insGluGlnGluTrpSerGln
ENST00000481827.5:c.671_688dup	ENSP00000417883.1:p.Gln229_Gly230insGluGlnGluTrpSerGln
ENST00000490709.1:n.491_508dup
ENST00000491889.5:c.*34_*51dup	ENSP00000419914.1:n.*34_*51dup
NM_001042413.1:c.671_688dup	NP_001035878.1:p.Gln229_Gly230insGluGlnGluTrpSerGln
NM_152629.3:c.206_223dup	NP_689842.3:p.Gln74_Gly75insGluGlnGluTrpSerGln
XM_005251386.3:c.206_223dup	XP_005251443.1:p.Gln74_Gly75insGluGlnGluTrpSerGln
XM_005251387.3:c.5_22dup	XP_005251444.1:p.Gln7_Gly8insGluGlnGluTrpSerGln
XM_005251388.3:c.5_22dup	XP_005251445.1:p.Gln7_Gly8insGluGlnGluTrpSerGln
XM_005251389.3:c.671_688dup	XP_005251446.1:p.Gln229_Gly230insGluGlnGluTrpSerGln
XM_006716731.2:c.671_688dup	XP_006716794.1:p.Gln229_Gly230insGluGlnGluTrpSerGln
XM_011517763.1:c.671_688dup	XP_011516065.1:p.Gln229_Gly230insGluGlnGluTrpSerGln
XM_011517764.1:c.671_688dup	XP_011516066.1:p.Gln229_Gly230insGluGlnGluTrpSerGln
XM_011517765.1:c.671_688dup	XP_011516067.1:p.Gln229_Gly230insGluGlnGluTrpSerGln
XM_011517766.1:c.206_223dup	XP_011516068.1:p.Gln74_Gly75insGluGlnGluTrpSerGln
XM_011517767.1:c.5_22dup	XP_011516069.1:p.Gln7_Gly8insGluGlnGluTrpSerGln
XM_011517768.1:c.671_688dup	XP_011516070.1:p.Gln229_Gly230insGluGlnGluTrpSerGln
XM_011517769.1:c.671_688dup	XP_011516071.1:p.Gln229_Gly230insGluGlnGluTrpSerGln
XR_929206.1:n.1437_1454dup
XM_005251386.4:c.206_223dup	XP_005251443.1:p.Gln74_Gly75insGluGlnGluTrpSerGln
XM_005251387.4:c.5_22dup	XP_005251444.1:p.Gln7_Gly8insGluGlnGluTrpSerGln
XM_005251388.4:c.5_22dup	XP_005251445.1:p.Gln7_Gly8insGluGlnGluTrpSerGln
XM_005251389.5:c.671_688dup	XP_005251446.1:p.Gln229_Gly230insGluGlnGluTrpSerGln
XM_006716731.3:c.671_688dup	XP_006716794.1:p.Gln229_Gly230insGluGlnGluTrpSerGln
XM_011517763.2:c.671_688dup	XP_011516065.1:p.Gln229_Gly230insGluGlnGluTrpSerGln
XM_011517764.2:c.671_688dup	XP_011516066.1:p.Gln229_Gly230insGluGlnGluTrpSerGln
XM_011517765.2:c.671_688dup	XP_011516067.1:p.Gln229_Gly230insGluGlnGluTrpSerGln
XM_011517766.2:c.206_223dup	XP_011516068.1:p.Gln74_Gly75insGluGlnGluTrpSerGln
XM_011517767.3:c.5_22dup	XP_011516069.1:p.Gln7_Gly8insGluGlnGluTrpSerGln
XM_011517769.2:c.671_688dup	XP_011516071.1:p.Gln229_Gly230insGluGlnGluTrpSerGln
XM_017014361.1:c.206_223dup	XP_016869850.1:p.Gln74_Gly75insGluGlnGluTrpSerGln
XR_929206.2:n.1433_1450dup
NM_001042413.2:c.671_688dup MANE Select	NP_001035878.1:p.Gln229_Gly230insGluGlnGluTrpSerGln
NM_152629.4:c.206_223dup	NP_689842.3:p.Gln74_Gly75insGluGlnGluTrpSerGln