Canonical Allele Identifier: CA2693794523

Gene: IQSEC2

Linked Data

• gnomAD v4: X-53235125-C-CGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53235130_53235131insGGGGGGGG , CM000685.2:g.53235130_53235131insGGGGGGGG	GRCh38
NC_000023.10:g.53264312_53264313insGGGGGGGG , CM000685.1:g.53264312_53264313insGGGGGGGG	GRCh37
NC_000023.9:g.53281037_53281038insGGGGGGGG	NCBI36
NG_021296.1:g.91215_91216insCCCCCCCC
NG_021296.2:g.91225_91226insCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3719_3720insCCCCCCCC	ENSP00000516672.1:p.Glu1243ArgfsTer?
ENST00000638521.1:c.1453+657_1453+658insCCCCCCCC
ENST00000638869.1:c.962+657_962+658insCCCCCCCC
ENST00000639796.1:c.316+1196_316+1197insCCCCCCCC	ENSP00000492252.1:n.316+1196_316+1197insCCCCCCCC
ENST00000640005.1:c.514+1196_514+1197insCCCCCCCC	ENSP00000491293.1:n.514+1196_514+1197insCCCCCCCC
ENST00000640436.1:n.540_541insCCCCCCCC
ENST00000640694.1:c.*45_*46insCCCCCCCC	ENSP00000492403.1:n.*45_*46insCCCCCCCC
ENST00000642864.1:c.3560_3561insCCCCCCCC MANE Select	ENSP00000495726.1:p.Glu1190ArgfsTer?
ENST00000674510.1:c.3560_3561insCCCCCCCC	ENSP00000502054.1:p.Glu1190ArgfsTer?
ENST00000675719.1:c.3530_3531insCCCCCCCC	ENSP00000501927.1:p.Glu1180ArgfsTer?
ENST00000375365.2:c.*45_*46insCCCCCCCC	ENSP00000364514.2:n.*45_*46insCCCCCCCC
ENST00000396435.7:c.3560_3561insCCCCCCCC	ENSP00000379712.3:p.Glu1190ArgfsTer?
NM_001111125.2:c.3560_3561insCCCCCCCC	NP_001104595.1:p.Glu1190ArgfsTer?
NM_015075.1:c.*45_*46insCCCCCCCC	NP_055890.1:n.*45_*46insCCCCCCCC
XM_006724579.2:c.3656_3657insCCCCCCCC	XP_006724642.1:p.Glu1222ArgfsTer?
XM_006724580.2:c.2945_2946insCCCCCCCC	XP_006724643.1:p.Glu985ArgfsTer?
XM_006724581.2:c.3597+657_3597+658insCCCCCCCC	XP_006724644.1:n.3597+657_3597+658insCCCCCCCC
XM_006724582.2:c.3597+657_3597+658insCCCCCCCC	XP_006724645.1:n.3597+657_3597+658insCCCCCCCC
XM_006724583.2:c.3547+1196_3547+1197insCCCCCCCC	XP_006724646.1:n.3547+1196_3547+1197insCCCCCCCC
XM_006724584.2:c.*45_*46insCCCCCCCC	XP_006724647.1:n.*45_*46insCCCCCCCC
XM_011530772.1:c.2882_2883insCCCCCCCC	XP_011529074.1:p.Glu964ArgfsTer?
XM_011530773.1:c.2849_2850insCCCCCCCC	XP_011529075.1:p.Glu953ArgfsTer?
XM_011530775.1:c.3547+1196_3547+1197insCCCCCCCC	XP_011529077.1:n.3547+1196_3547+1197insCCCCCCCC
XM_006724579.3:c.3656_3657insCCCCCCCC	XP_006724642.1:p.Glu1222ArgfsTer?
XM_006724580.3:c.2945_2946insCCCCCCCC	XP_006724643.1:p.Glu985ArgfsTer?
XM_006724581.4:c.3597+657_3597+658insCCCCCCCC	XP_006724644.1:n.3597+657_3597+658insCCCCCCCC
XM_006724582.4:c.3597+657_3597+658insCCCCCCCC	XP_006724645.1:n.3597+657_3597+658insCCCCCCCC
XM_006724583.4:c.3547+1196_3547+1197insCCCCCCCC	XP_006724646.1:n.3547+1196_3547+1197insCCCCCCCC
XM_006724584.3:c.*45_*46insCCCCCCCC	XP_006724647.1:n.*45_*46insCCCCCCCC
XM_011530773.2:c.2849_2850insCCCCCCCC	XP_011529075.1:p.Glu953ArgfsTer?
XM_017029359.2:c.3530_3531insCCCCCCCC	XP_016884848.1:p.Glu1180ArgfsTer?
XM_017029360.1:c.3062_3063insCCCCCCCC	XP_016884849.1:p.Glu1024ArgfsTer?
NM_001111125.3:c.3560_3561insCCCCCCCC MANE Select	NP_001104595.1:p.Glu1190ArgfsTer?
NM_015075.2:c.*45_*46insCCCCCCCC	NP_055890.1:n.*45_*46insCCCCCCCC