Canonical Allele Identifier: CA585959910

Gene: GLIS3

Linked Data

• dbSNP Id: rs1383037637
• gnomAD v2: 9-4292997-GCTT-G
• gnomAD v3: 9-4292997-GCTT-G
• gnomAD v4: 9-4292997-GCTT-G
• MyVariant Identifiers: chr9:g.4292998_4293000del (hg19) ; chr9:g.4292998_4293000del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4293005_4293007del , CM000671.2:g.4293005_4293007del	GRCh38
NC_000009.11:g.4293005_4293007del , CM000671.1:g.4293005_4293007del	GRCh37
NC_000009.10:g.4283005_4283007del	NCBI36
NG_011782.1:g.12036_12038del
NG_011782.2:g.12036_12038del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491889.6:c.-99+6421_-99+6423del	ENSP00000419914.1:n.-99+6421_-99+6423del
ENST00000682749.1:c.-78+6421_-78+6423del	ENSP00000507306.1:n.-78+6421_-78+6423del
ENST00000381971.8:c.-99+6421_-99+6423del MANE Select	ENSP00000371398.3:n.-99+6421_-99+6423del
ENST00000381971.7:c.-99+6421_-99+6423del	ENSP00000371398.3:n.-99+6421_-99+6423del
ENST00000465708.5:n.496+6421_496+6423del
ENST00000471664.1:n.585-6477_585-6475del
ENST00000477901.5:c.-99+6421_-99+6423del	ENSP00000417794.1:n.-99+6421_-99+6423del
ENST00000478844.5:c.-78+5384_-78+5386del	ENSP00000418005.1:n.-78+5384_-78+5386del
ENST00000481827.5:c.-99+5384_-99+5386del	ENSP00000417883.1:n.-99+5384_-99+5386del
ENST00000490709.1:n.416+6421_416+6423del
ENST00000491889.5:c.-99+6421_-99+6423del	ENSP00000419914.1:n.-99+6421_-99+6423del
NM_001042413.1:c.-99+6421_-99+6423del	NP_001035878.1:n.-99+6421_-99+6423del
XM_005251386.3:c.-78+6421_-78+6423del	XP_005251443.1:n.-78+6421_-78+6423del
XM_005251387.3:c.-557+6421_-557+6423del	XP_005251444.1:n.-557+6421_-557+6423del
XM_005251388.3:c.-71+6421_-71+6423del	XP_005251445.1:n.-71+6421_-71+6423del
XM_005251389.3:c.-99+6421_-99+6423del	XP_005251446.1:n.-99+6421_-99+6423del
XM_006716731.2:c.-99+6421_-99+6423del	XP_006716794.1:n.-99+6421_-99+6423del
XM_011517763.1:c.-98-6477_-98-6475del	XP_011516065.1:n.-98-6477_-98-6475del
XM_011517764.1:c.-99+5384_-99+5386del	XP_011516066.1:n.-99+5384_-99+5386del
XM_011517765.1:c.-99+6421_-99+6423del	XP_011516067.1:n.-99+6421_-99+6423del
XM_011517767.1:c.-557+5384_-557+5386del	XP_011516069.1:n.-557+5384_-557+5386del
XM_011517768.1:c.-99+6421_-99+6423del	XP_011516070.1:n.-99+6421_-99+6423del
XM_011517769.1:c.-99+6421_-99+6423del	XP_011516071.1:n.-99+6421_-99+6423del
XR_929206.1:n.668+6421_668+6423del
XM_005251386.4:c.-78+6421_-78+6423del	XP_005251443.1:n.-78+6421_-78+6423del
XM_005251387.4:c.-557+6421_-557+6423del	XP_005251444.1:n.-557+6421_-557+6423del
XM_005251388.4:c.-71+6421_-71+6423del	XP_005251445.1:n.-71+6421_-71+6423del
XM_005251389.5:c.-99+6421_-99+6423del	XP_005251446.1:n.-99+6421_-99+6423del
XM_006716731.3:c.-99+6421_-99+6423del	XP_006716794.1:n.-99+6421_-99+6423del
XM_011517763.2:c.-98-6477_-98-6475del	XP_011516065.1:n.-98-6477_-98-6475del
XM_011517764.2:c.-99+5384_-99+5386del	XP_011516066.1:n.-99+5384_-99+5386del
XM_011517765.2:c.-99+6421_-99+6423del	XP_011516067.1:n.-99+6421_-99+6423del
XM_011517767.3:c.-557+5384_-557+5386del	XP_011516069.1:n.-557+5384_-557+5386del
XM_011517769.2:c.-99+6421_-99+6423del	XP_011516071.1:n.-99+6421_-99+6423del
XR_929206.2:n.664+6421_664+6423del
NM_001042413.2:c.-99+6421_-99+6423del MANE Select	NP_001035878.1:n.-99+6421_-99+6423del