Canonical Allele Identifier: CA1120672199

Gene: GLIS3

Linked Data

• dbSNP Id: rs1825660371
• gnomAD v3: 9-3932153-CATATCA-C
• gnomAD v4: 9-3932153-CATATCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.3932154_3932159del , CM000671.2:g.3932154_3932159del	GRCh38
NC_000009.11:g.3932154_3932159del , CM000671.1:g.3932154_3932159del	GRCh37
NC_000009.10:g.3922154_3922159del	NCBI36
NG_011782.1:g.372877_372882del
NG_011782.2:g.372877_372882del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463680.6:n.273+201_273+206del
ENST00000464391.2:n.541+201_541+206del
ENST00000491889.6:c.*1346+201_*1346+206del	ENSP00000419914.1:n.*1346+201_*1346+206del
ENST00000645252.2:n.425+201_425+206del
ENST00000682749.1:c.1518+201_1518+206del	ENSP00000507306.1:n.1518+201_1518+206del
ENST00000682846.1:c.132-102667_132-102662del	ENSP00000507527.1:n.132-102667_132-102662del
ENST00000682864.1:n.482+201_482+206del
ENST00000381971.8:c.1983+201_1983+206del MANE Select	ENSP00000371398.3:n.1983+201_1983+206del
ENST00000645252.1:n.425+201_425+206del
ENST00000324333.14:c.1518+201_1518+206del	ENSP00000325494.10:n.1518+201_1518+206del
ENST00000381971.7:c.1983+201_1983+206del	ENSP00000371398.3:n.1983+201_1983+206del
ENST00000461870.5:n.339+201_339+206del
ENST00000463680.5:n.273+201_273+206del
ENST00000467497.6:n.523+201_523+206del
NM_001042413.1:c.1983+201_1983+206del	NP_001035878.1:n.1983+201_1983+206del
NM_152629.3:c.1518+201_1518+206del	NP_689842.3:n.1518+201_1518+206del
XM_005251386.3:c.1518+201_1518+206del	XP_005251443.1:n.1518+201_1518+206del
XM_005251387.3:c.1317+201_1317+206del	XP_005251444.1:n.1317+201_1317+206del
XM_005251388.3:c.1317+201_1317+206del	XP_005251445.1:n.1317+201_1317+206del
XM_011517763.1:c.1983+201_1983+206del	XP_011516065.1:n.1983+201_1983+206del
XM_011517764.1:c.1983+201_1983+206del	XP_011516066.1:n.1983+201_1983+206del
XM_011517765.1:c.1983+201_1983+206del	XP_011516067.1:n.1983+201_1983+206del
XM_011517766.1:c.1518+201_1518+206del	XP_011516068.1:n.1518+201_1518+206del
XM_011517767.1:c.1317+201_1317+206del	XP_011516069.1:n.1317+201_1317+206del
XM_005251386.4:c.1518+201_1518+206del	XP_005251443.1:n.1518+201_1518+206del
XM_005251387.4:c.1317+201_1317+206del	XP_005251444.1:n.1317+201_1317+206del
XM_005251388.4:c.1317+201_1317+206del	XP_005251445.1:n.1317+201_1317+206del
XM_011517763.2:c.1983+201_1983+206del	XP_011516065.1:n.1983+201_1983+206del
XM_011517764.2:c.1983+201_1983+206del	XP_011516066.1:n.1983+201_1983+206del
XM_011517765.2:c.1983+201_1983+206del	XP_011516067.1:n.1983+201_1983+206del
XM_011517766.2:c.1518+201_1518+206del	XP_011516068.1:n.1518+201_1518+206del
XM_011517767.3:c.1317+201_1317+206del	XP_011516069.1:n.1317+201_1317+206del
XM_017014361.1:c.1518+201_1518+206del	XP_016869850.1:n.1518+201_1518+206del
NM_001042413.2:c.1983+201_1983+206del MANE Select	NP_001035878.1:n.1983+201_1983+206del
NM_152629.4:c.1518+201_1518+206del	NP_689842.3:n.1518+201_1518+206del