Canonical Allele Identifier: CA188287493
Gene: GLIS3 HGNC NCBI

Linked Data

dbSNP Id: rs201638563
gnomAD v2: 9-3856307-TA-T
gnomAD v3: 9-3856307-TA-T
gnomAD v4: 9-3856307-TA-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.3856316del , CM000671.2:g.3856316del GRCh38
NC_000009.11:g.3856316del , CM000671.1:g.3856316del GRCh37
NC_000009.10:g.3846316del NCBI36
NG_011782.1:g.448728del
NG_011782.2:g.448728del

Transcript Alleles

HGVS Amino-acid Change
ENST00000464391.2:n.856-124del
ENST00000491889.6:c.*1661-124del ENSP00000419914.1:n.*1661-124del
ENST00000645252.2:n.740-124del
ENST00000682749.1:c.1833-124del ENSP00000507306.1:n.1833-124del
ENST00000682846.1:c.132-26816del ENSP00000507527.1:n.132-26816del
ENST00000682864.1:n.797-124del
ENST00000381971.8:c.2298-124del MANE Select ENSP00000371398.3:n.2298-124del
ENST00000645252.1:n.740-124del
ENST00000324333.14:c.1833-124del ENSP00000325494.10:n.1833-124del
ENST00000381971.7:c.2298-124del ENSP00000371398.3:n.2298-124del
ENST00000461870.5:n.654-124del
ENST00000467497.6:n.838-124del
NM_001042413.1:c.2298-124del NP_001035878.1:n.2298-124del
NM_152629.3:c.1833-124del NP_689842.3:n.1833-124del
XM_005251386.3:c.1833-124del XP_005251443.1:n.1833-124del
XM_005251387.3:c.1632-124del XP_005251444.1:n.1632-124del
XM_005251388.3:c.1632-124del XP_005251445.1:n.1632-124del
XM_011517763.1:c.2298-124del XP_011516065.1:n.2298-124del
XM_011517764.1:c.2298-124del XP_011516066.1:n.2298-124del
XM_011517765.1:c.2298-124del XP_011516067.1:n.2298-124del
XM_011517766.1:c.1833-124del XP_011516068.1:n.1833-124del
XM_011517767.1:c.1632-124del XP_011516069.1:n.1632-124del
XM_005251386.4:c.1833-124del XP_005251443.1:n.1833-124del
XM_005251387.4:c.1632-124del XP_005251444.1:n.1632-124del
XM_005251388.4:c.1632-124del XP_005251445.1:n.1632-124del
XM_011517763.2:c.2298-124del XP_011516065.1:n.2298-124del
XM_011517764.2:c.2298-124del XP_011516066.1:n.2298-124del
XM_011517765.2:c.2298-124del XP_011516067.1:n.2298-124del
XM_011517766.2:c.1833-124del XP_011516068.1:n.1833-124del
XM_011517767.3:c.1632-124del XP_011516069.1:n.1632-124del
XM_017014361.1:c.1833-124del XP_016869850.1:n.1833-124del
NM_001042413.2:c.2298-124del MANE Select NP_001035878.1:n.2298-124del
NM_152629.4:c.1833-124del NP_689842.3:n.1833-124del