Canonical Allele Identifier: CA1120705202

Gene: GLIS3

Linked Data

• dbSNP Id: rs1815984514
• gnomAD v3: 9-4291596-AAAGG-A
• gnomAD v4: 9-4291596-AAAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4291598_4291601del , CM000671.2:g.4291598_4291601del	GRCh38
NC_000009.11:g.4291598_4291601del , CM000671.1:g.4291598_4291601del	GRCh37
NC_000009.10:g.4281598_4281601del	NCBI36
NG_011782.1:g.13436_13439del
NG_011782.2:g.13436_13439del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491889.6:c.-98-5077_-98-5074del	ENSP00000419914.1:n.-98-5077_-98-5074del
ENST00000682749.1:c.-78+7821_-78+7824del	ENSP00000507306.1:n.-78+7821_-78+7824del
ENST00000381971.8:c.-98-5077_-98-5074del MANE Select	ENSP00000371398.3:n.-98-5077_-98-5074del
ENST00000381971.7:c.-98-5077_-98-5074del	ENSP00000371398.3:n.-98-5077_-98-5074del
ENST00000465708.5:n.497-5077_497-5074del
ENST00000471664.1:n.585-5077_585-5074del
ENST00000477901.5:c.-98-5077_-98-5074del	ENSP00000417794.1:n.-98-5077_-98-5074del
ENST00000478844.5:c.-78+6784_-78+6787del	ENSP00000418005.1:n.-78+6784_-78+6787del
ENST00000481827.5:c.-98-5077_-98-5074del	ENSP00000417883.1:n.-98-5077_-98-5074del
ENST00000490709.1:n.416+7821_416+7824del
ENST00000491889.5:c.-98-5077_-98-5074del	ENSP00000419914.1:n.-98-5077_-98-5074del
NM_001042413.1:c.-98-5077_-98-5074del	NP_001035878.1:n.-98-5077_-98-5074del
XM_005251386.3:c.-78+7821_-78+7824del	XP_005251443.1:n.-78+7821_-78+7824del
XM_005251387.3:c.-556-5077_-556-5074del	XP_005251444.1:n.-556-5077_-556-5074del
XM_005251388.3:c.-71+7821_-71+7824del	XP_005251445.1:n.-71+7821_-71+7824del
XM_005251389.3:c.-98-5077_-98-5074del	XP_005251446.1:n.-98-5077_-98-5074del
XM_006716731.2:c.-98-5077_-98-5074del	XP_006716794.1:n.-98-5077_-98-5074del
XM_011517763.1:c.-98-5077_-98-5074del	XP_011516065.1:n.-98-5077_-98-5074del
XM_011517764.1:c.-98-5077_-98-5074del	XP_011516066.1:n.-98-5077_-98-5074del
XM_011517765.1:c.-98-5077_-98-5074del	XP_011516067.1:n.-98-5077_-98-5074del
XM_011517767.1:c.-556-5077_-556-5074del	XP_011516069.1:n.-556-5077_-556-5074del
XM_011517768.1:c.-98-5077_-98-5074del	XP_011516070.1:n.-98-5077_-98-5074del
XM_011517769.1:c.-98-5077_-98-5074del	XP_011516071.1:n.-98-5077_-98-5074del
XR_929206.1:n.669-5077_669-5074del
XM_005251386.4:c.-78+7821_-78+7824del	XP_005251443.1:n.-78+7821_-78+7824del
XM_005251387.4:c.-556-5077_-556-5074del	XP_005251444.1:n.-556-5077_-556-5074del
XM_005251388.4:c.-71+7821_-71+7824del	XP_005251445.1:n.-71+7821_-71+7824del
XM_005251389.5:c.-98-5077_-98-5074del	XP_005251446.1:n.-98-5077_-98-5074del
XM_006716731.3:c.-98-5077_-98-5074del	XP_006716794.1:n.-98-5077_-98-5074del
XM_011517763.2:c.-98-5077_-98-5074del	XP_011516065.1:n.-98-5077_-98-5074del
XM_011517764.2:c.-98-5077_-98-5074del	XP_011516066.1:n.-98-5077_-98-5074del
XM_011517765.2:c.-98-5077_-98-5074del	XP_011516067.1:n.-98-5077_-98-5074del
XM_011517767.3:c.-556-5077_-556-5074del	XP_011516069.1:n.-556-5077_-556-5074del
XM_011517769.2:c.-98-5077_-98-5074del	XP_011516071.1:n.-98-5077_-98-5074del
XR_929206.2:n.665-5077_665-5074del
NM_001042413.2:c.-98-5077_-98-5074del MANE Select	NP_001035878.1:n.-98-5077_-98-5074del