Canonical Allele Identifier: CA2693794587

Gene: IQSEC2

Linked Data

• gnomAD v4: X-53235131-T-TGGGGGCGGGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53235139_53235140insGGGGGGGGGGGGGGGGCGG , CM000685.2:g.53235139_53235140insGGGGGGGGGGGGGGGGCGG	GRCh38
NC_000023.10:g.53264321_53264322insGGGGGGGGGGGGGGGGCGG , CM000685.1:g.53264321_53264322insGGGGGGGGGGGGGGGGCGG	GRCh37
NC_000023.9:g.53281046_53281047insGGGGGGGGGGGGGGGGCGG	NCBI36
NG_021296.1:g.91209_91210insCCCCCCCCCCCCCGCCCCC
NG_021296.2:g.91219_91220insCCCCCCCCCCCCCGCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3713_3714insCCCCCCCCCCCCCGCCCCC	ENSP00000516672.1:p.Glu1243AlafsTer?
ENST00000638521.1:c.1453+651_1453+652insCCCCCCCCCCCCCGCCCCC
ENST00000638869.1:c.962+651_962+652insCCCCCCCCCCCCCGCCCCC
ENST00000639796.1:c.316+1190_316+1191insCCCCCCCCCCCCCGCCCCC	ENSP00000492252.1:n.316+1190_316+1191insCCCCCCCCCCCCCGCCCCC
ENST00000640005.1:c.514+1190_514+1191insCCCCCCCCCCCCCGCCCCC	ENSP00000491293.1:n.514+1190_514+1191insCCCCCCCCCCCCCGCCCCC
ENST00000640436.1:n.534_535insCCCCCCCCCCCCCGCCCCC
ENST00000640694.1:c.*39_*40insCCCCCCCCCCCCCGCCCCC	ENSP00000492403.1:n.*39_*40insCCCCCCCCCCCCCGCCCCC
ENST00000642864.1:c.3554_3555insCCCCCCCCCCCCCGCCCCC MANE Select	ENSP00000495726.1:p.Glu1190AlafsTer?
ENST00000674510.1:c.3554_3555insCCCCCCCCCCCCCGCCCCC	ENSP00000502054.1:p.Glu1190AlafsTer?
ENST00000675719.1:c.3524_3525insCCCCCCCCCCCCCGCCCCC	ENSP00000501927.1:p.Glu1180AlafsTer?
ENST00000375365.2:c.*39_*40insCCCCCCCCCCCCCGCCCCC	ENSP00000364514.2:n.*39_*40insCCCCCCCCCCCCCGCCCCC
ENST00000396435.7:c.3554_3555insCCCCCCCCCCCCCGCCCCC	ENSP00000379712.3:p.Glu1190AlafsTer?
NM_001111125.2:c.3554_3555insCCCCCCCCCCCCCGCCCCC	NP_001104595.1:p.Glu1190AlafsTer?
NM_015075.1:c.*39_*40insCCCCCCCCCCCCCGCCCCC	NP_055890.1:n.*39_*40insCCCCCCCCCCCCCGCCCCC
XM_006724579.2:c.3650_3651insCCCCCCCCCCCCCGCCCCC	XP_006724642.1:p.Glu1222AlafsTer?
XM_006724580.2:c.2939_2940insCCCCCCCCCCCCCGCCCCC	XP_006724643.1:p.Glu985AlafsTer?
XM_006724581.2:c.3597+651_3597+652insCCCCCCCCCCCCCGCCCCC	XP_006724644.1:n.3597+651_3597+652insCCCCCCCCCCCCCGCCCCC
XM_006724582.2:c.3597+651_3597+652insCCCCCCCCCCCCCGCCCCC	XP_006724645.1:n.3597+651_3597+652insCCCCCCCCCCCCCGCCCCC
XM_006724583.2:c.3547+1190_3547+1191insCCCCCCCCCCCCCGCCCCC	XP_006724646.1:n.3547+1190_3547+1191insCCCCCCCCCCCCCGCCCCC
XM_006724584.2:c.*39_*40insCCCCCCCCCCCCCGCCCCC	XP_006724647.1:n.*39_*40insCCCCCCCCCCCCCGCCCCC
XM_011530772.1:c.2876_2877insCCCCCCCCCCCCCGCCCCC	XP_011529074.1:p.Glu964AlafsTer?
XM_011530773.1:c.2843_2844insCCCCCCCCCCCCCGCCCCC	XP_011529075.1:p.Glu953AlafsTer?
XM_011530775.1:c.3547+1190_3547+1191insCCCCCCCCCCCCCGCCCCC	XP_011529077.1:n.3547+1190_3547+1191insCCCCCCCCCCCCCGCCCCC
XM_006724579.3:c.3650_3651insCCCCCCCCCCCCCGCCCCC	XP_006724642.1:p.Glu1222AlafsTer?
XM_006724580.3:c.2939_2940insCCCCCCCCCCCCCGCCCCC	XP_006724643.1:p.Glu985AlafsTer?
XM_006724581.4:c.3597+651_3597+652insCCCCCCCCCCCCCGCCCCC	XP_006724644.1:n.3597+651_3597+652insCCCCCCCCCCCCCGCCCCC
XM_006724582.4:c.3597+651_3597+652insCCCCCCCCCCCCCGCCCCC	XP_006724645.1:n.3597+651_3597+652insCCCCCCCCCCCCCGCCCCC
XM_006724583.4:c.3547+1190_3547+1191insCCCCCCCCCCCCCGCCCCC	XP_006724646.1:n.3547+1190_3547+1191insCCCCCCCCCCCCCGCCCCC
XM_006724584.3:c.*39_*40insCCCCCCCCCCCCCGCCCCC	XP_006724647.1:n.*39_*40insCCCCCCCCCCCCCGCCCCC
XM_011530773.2:c.2843_2844insCCCCCCCCCCCCCGCCCCC	XP_011529075.1:p.Glu953AlafsTer?
XM_017029359.2:c.3524_3525insCCCCCCCCCCCCCGCCCCC	XP_016884848.1:p.Glu1180AlafsTer?
XM_017029360.1:c.3056_3057insCCCCCCCCCCCCCGCCCCC	XP_016884849.1:p.Glu1024AlafsTer?
NM_001111125.3:c.3554_3555insCCCCCCCCCCCCCGCCCCC MANE Select	NP_001104595.1:p.Glu1190AlafsTer?
NM_015075.2:c.*39_*40insCCCCCCCCCCCCCGCCCCC	NP_055890.1:n.*39_*40insCCCCCCCCCCCCCGCCCCC