Canonical Allele Identifier: CA2693794518

Gene: IQSEC2

Linked Data

• gnomAD v4: X-53235125-C-CGGGGGGGGTGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53235130_53235131insGGGTGGGGGGGGGGG , CM000685.2:g.53235130_53235131insGGGTGGGGGGGGGGG	GRCh38
NC_000023.10:g.53264312_53264313insGGGTGGGGGGGGGGG , CM000685.1:g.53264312_53264313insGGGTGGGGGGGGGGG	GRCh37
NC_000023.9:g.53281037_53281038insGGGTGGGGGGGGGGG	NCBI36
NG_021296.1:g.91215_91216insCCCCCCACCCCCCCC
NG_021296.2:g.91225_91226insCCCCCCACCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3719_3720insCCCCCCACCCCCCCC	ENSP00000516672.1:p.Pro1240_Pro1241insProProProProPro
ENST00000638521.1:c.1453+657_1453+658insCCCCCCACCCCCCCC
ENST00000638869.1:c.962+657_962+658insCCCCCCACCCCCCCC
ENST00000639796.1:c.316+1196_316+1197insCCCCCCACCCCCCCC	ENSP00000492252.1:n.316+1196_316+1197insCCCCCCACCCCCCCC
ENST00000640005.1:c.514+1196_514+1197insCCCCCCACCCCCCCC	ENSP00000491293.1:n.514+1196_514+1197insCCCCCCACCCCCCCC
ENST00000640436.1:n.540_541insCCCCCCACCCCCCCC
ENST00000640694.1:c.*45_*46insCCCCCCACCCCCCCC	ENSP00000492403.1:n.*45_*46insCCCCCCACCCCCCCC
ENST00000642864.1:c.3560_3561insCCCCCCACCCCCCCC MANE Select	ENSP00000495726.1:p.Pro1187_Pro1188insProProProProPro
ENST00000674510.1:c.3560_3561insCCCCCCACCCCCCCC	ENSP00000502054.1:p.Pro1187_Pro1188insProProProProPro
ENST00000675719.1:c.3530_3531insCCCCCCACCCCCCCC	ENSP00000501927.1:p.Pro1177_Pro1178insProProProProPro
ENST00000375365.2:c.*45_*46insCCCCCCACCCCCCCC	ENSP00000364514.2:n.*45_*46insCCCCCCACCCCCCCC
ENST00000396435.7:c.3560_3561insCCCCCCACCCCCCCC	ENSP00000379712.3:p.Pro1187_Pro1188insProProProProPro
NM_001111125.2:c.3560_3561insCCCCCCACCCCCCCC	NP_001104595.1:p.Pro1187_Pro1188insProProProProPro
NM_015075.1:c.*45_*46insCCCCCCACCCCCCCC	NP_055890.1:n.*45_*46insCCCCCCACCCCCCCC
XM_006724579.2:c.3656_3657insCCCCCCACCCCCCCC	XP_006724642.1:p.Pro1219_Pro1220insProProProProPro
XM_006724580.2:c.2945_2946insCCCCCCACCCCCCCC	XP_006724643.1:p.Pro982_Pro983insProProProProPro
XM_006724581.2:c.3597+657_3597+658insCCCCCCACCCCCCCC	XP_006724644.1:n.3597+657_3597+658insCCCCCCACCCCCCCC
XM_006724582.2:c.3597+657_3597+658insCCCCCCACCCCCCCC	XP_006724645.1:n.3597+657_3597+658insCCCCCCACCCCCCCC
XM_006724583.2:c.3547+1196_3547+1197insCCCCCCACCCCCCCC	XP_006724646.1:n.3547+1196_3547+1197insCCCCCCACCCCCCCC
XM_006724584.2:c.*45_*46insCCCCCCACCCCCCCC	XP_006724647.1:n.*45_*46insCCCCCCACCCCCCCC
XM_011530772.1:c.2882_2883insCCCCCCACCCCCCCC	XP_011529074.1:p.Pro961_Pro962insProProProProPro
XM_011530773.1:c.2849_2850insCCCCCCACCCCCCCC	XP_011529075.1:p.Pro950_Pro951insProProProProPro
XM_011530775.1:c.3547+1196_3547+1197insCCCCCCACCCCCCCC	XP_011529077.1:n.3547+1196_3547+1197insCCCCCCACCCCCCCC
XM_006724579.3:c.3656_3657insCCCCCCACCCCCCCC	XP_006724642.1:p.Pro1219_Pro1220insProProProProPro
XM_006724580.3:c.2945_2946insCCCCCCACCCCCCCC	XP_006724643.1:p.Pro982_Pro983insProProProProPro
XM_006724581.4:c.3597+657_3597+658insCCCCCCACCCCCCCC	XP_006724644.1:n.3597+657_3597+658insCCCCCCACCCCCCCC
XM_006724582.4:c.3597+657_3597+658insCCCCCCACCCCCCCC	XP_006724645.1:n.3597+657_3597+658insCCCCCCACCCCCCCC
XM_006724583.4:c.3547+1196_3547+1197insCCCCCCACCCCCCCC	XP_006724646.1:n.3547+1196_3547+1197insCCCCCCACCCCCCCC
XM_006724584.3:c.*45_*46insCCCCCCACCCCCCCC	XP_006724647.1:n.*45_*46insCCCCCCACCCCCCCC
XM_011530773.2:c.2849_2850insCCCCCCACCCCCCCC	XP_011529075.1:p.Pro950_Pro951insProProProProPro
XM_017029359.2:c.3530_3531insCCCCCCACCCCCCCC	XP_016884848.1:p.Pro1177_Pro1178insProProProProPro
XM_017029360.1:c.3062_3063insCCCCCCACCCCCCCC	XP_016884849.1:p.Pro1021_Pro1022insProProProProPro
NM_001111125.3:c.3560_3561insCCCCCCACCCCCCCC MANE Select	NP_001104595.1:p.Pro1187_Pro1188insProProProProPro
NM_015075.2:c.*45_*46insCCCCCCACCCCCCCC	NP_055890.1:n.*45_*46insCCCCCCACCCCCCCC