Canonical Allele Identifier: CA586168686

Gene: GLIS3

Linked Data

• dbSNP Id: rs1252512566
• gnomAD v2: 9-3856121-TGAA-T
• MyVariant Identifiers: chr9:g.3856122_3856124del (hg19) ; chr9:g.3856122_3856124del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.3856126_3856128del , CM000671.2:g.3856126_3856128del	GRCh38
NC_000009.11:g.3856126_3856128del , CM000671.1:g.3856126_3856128del	GRCh37
NC_000009.10:g.3846126_3846128del	NCBI36
NG_011782.1:g.448912_448914del
NG_011782.2:g.448912_448914del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464391.2:n.916_918del
ENST00000491889.6:c.*1721_*1723del	ENSP00000419914.1:n.*1721_*1723del
ENST00000645252.2:n.800_802del
ENST00000682749.1:c.1893_1895del	ENSP00000507306.1:p.Ser632del
ENST00000682846.1:c.132-26632_132-26630del	ENSP00000507527.1:n.132-26632_132-26630del
ENST00000682864.1:n.857_859del
ENST00000381971.8:c.2358_2360del MANE Select	ENSP00000371398.3:p.Ser787del
ENST00000645252.1:n.800_802del
ENST00000324333.14:c.1893_1895del	ENSP00000325494.10:p.Ser632del
ENST00000381971.7:c.2358_2360del	ENSP00000371398.3:p.Ser787del
ENST00000461870.5:n.714_716del
ENST00000467497.6:n.898_900del
NM_001042413.1:c.2358_2360del	NP_001035878.1:p.Ser787del
NM_152629.3:c.1893_1895del	NP_689842.3:p.Ser632del
XM_005251386.3:c.1893_1895del	XP_005251443.1:p.Ser632del
XM_005251387.3:c.1692_1694del	XP_005251444.1:p.Ser565del
XM_005251388.3:c.1692_1694del	XP_005251445.1:p.Ser565del
XM_011517763.1:c.2358_2360del	XP_011516065.1:p.Ser787del
XM_011517764.1:c.2358_2360del	XP_011516066.1:p.Ser787del
XM_011517765.1:c.2358_2360del	XP_011516067.1:p.Ser787del
XM_011517766.1:c.1893_1895del	XP_011516068.1:p.Ser632del
XM_011517767.1:c.1692_1694del	XP_011516069.1:p.Ser565del
XM_005251386.4:c.1893_1895del	XP_005251443.1:p.Ser632del
XM_005251387.4:c.1692_1694del	XP_005251444.1:p.Ser565del
XM_005251388.4:c.1692_1694del	XP_005251445.1:p.Ser565del
XM_011517763.2:c.2358_2360del	XP_011516065.1:p.Ser787del
XM_011517764.2:c.2358_2360del	XP_011516066.1:p.Ser787del
XM_011517765.2:c.2358_2360del	XP_011516067.1:p.Ser787del
XM_011517766.2:c.1893_1895del	XP_011516068.1:p.Ser632del
XM_011517767.3:c.1692_1694del	XP_011516069.1:p.Ser565del
XM_017014361.1:c.1893_1895del	XP_016869850.1:p.Ser632del
NM_001042413.2:c.2358_2360del MANE Select	NP_001035878.1:p.Ser787del
NM_152629.4:c.1893_1895del	NP_689842.3:p.Ser632del