Canonical Allele Identifier: CA586127944

Gene: GLIS3

Linked Data

• dbSNP Id: rs1404394461
• gnomAD v2: 9-3932179-TATCAGCTATGCAAACCATAGC-T
• gnomAD v3: 9-3932179-TATCAGCTATGCAAACCATAGC-T
• gnomAD v4: 9-3932179-TATCAGCTATGCAAACCATAGC-T
• MyVariant Identifiers: chr9:g.3932180_3932200del (hg19) ; chr9:g.3932180_3932200del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.3932180_3932200del , CM000671.2:g.3932180_3932200del	GRCh38
NC_000009.11:g.3932180_3932200del , CM000671.1:g.3932180_3932200del	GRCh37
NC_000009.10:g.3922180_3922200del	NCBI36
NG_011782.1:g.372836_372856del
NG_011782.2:g.372836_372856del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463680.6:n.273+160_273+180del
ENST00000464391.2:n.541+160_541+180del
ENST00000491889.6:c.*1346+160_*1346+180del	ENSP00000419914.1:n.*1346+160_*1346+180del
ENST00000645252.2:n.425+160_425+180del
ENST00000682749.1:c.1518+160_1518+180del	ENSP00000507306.1:n.1518+160_1518+180del
ENST00000682846.1:c.132-102708_132-102688del	ENSP00000507527.1:n.132-102708_132-102688del
ENST00000682864.1:n.482+160_482+180del
ENST00000381971.8:c.1983+160_1983+180del MANE Select	ENSP00000371398.3:n.1983+160_1983+180del
ENST00000645252.1:n.425+160_425+180del
ENST00000324333.14:c.1518+160_1518+180del	ENSP00000325494.10:n.1518+160_1518+180del
ENST00000381971.7:c.1983+160_1983+180del	ENSP00000371398.3:n.1983+160_1983+180del
ENST00000461870.5:n.339+160_339+180del
ENST00000463680.5:n.273+160_273+180del
ENST00000467497.6:n.523+160_523+180del
NM_001042413.1:c.1983+160_1983+180del	NP_001035878.1:n.1983+160_1983+180del
NM_152629.3:c.1518+160_1518+180del	NP_689842.3:n.1518+160_1518+180del
XM_005251386.3:c.1518+160_1518+180del	XP_005251443.1:n.1518+160_1518+180del
XM_005251387.3:c.1317+160_1317+180del	XP_005251444.1:n.1317+160_1317+180del
XM_005251388.3:c.1317+160_1317+180del	XP_005251445.1:n.1317+160_1317+180del
XM_011517763.1:c.1983+160_1983+180del	XP_011516065.1:n.1983+160_1983+180del
XM_011517764.1:c.1983+160_1983+180del	XP_011516066.1:n.1983+160_1983+180del
XM_011517765.1:c.1983+160_1983+180del	XP_011516067.1:n.1983+160_1983+180del
XM_011517766.1:c.1518+160_1518+180del	XP_011516068.1:n.1518+160_1518+180del
XM_011517767.1:c.1317+160_1317+180del	XP_011516069.1:n.1317+160_1317+180del
XM_005251386.4:c.1518+160_1518+180del	XP_005251443.1:n.1518+160_1518+180del
XM_005251387.4:c.1317+160_1317+180del	XP_005251444.1:n.1317+160_1317+180del
XM_005251388.4:c.1317+160_1317+180del	XP_005251445.1:n.1317+160_1317+180del
XM_011517763.2:c.1983+160_1983+180del	XP_011516065.1:n.1983+160_1983+180del
XM_011517764.2:c.1983+160_1983+180del	XP_011516066.1:n.1983+160_1983+180del
XM_011517765.2:c.1983+160_1983+180del	XP_011516067.1:n.1983+160_1983+180del
XM_011517766.2:c.1518+160_1518+180del	XP_011516068.1:n.1518+160_1518+180del
XM_011517767.3:c.1317+160_1317+180del	XP_011516069.1:n.1317+160_1317+180del
XM_017014361.1:c.1518+160_1518+180del	XP_016869850.1:n.1518+160_1518+180del
NM_001042413.2:c.1983+160_1983+180del MANE Select	NP_001035878.1:n.1983+160_1983+180del
NM_152629.4:c.1518+160_1518+180del	NP_689842.3:n.1518+160_1518+180del