Canonical Allele Identifier: CA1133160179

Gene: IQSEC2

Linked Data

• gnomAD v3: X-53235131-T-TGGGGGGGGGGGGGG
• gnomAD v4: X-53235131-T-TGGGGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53235136_53235137insGGGGGGGGGGGGGG , CM000685.2:g.53235136_53235137insGGGGGGGGGGGGGG	GRCh38
NC_000023.10:g.53264318_53264319insGGGGGGGGGGGGGG , CM000685.1:g.53264318_53264319insGGGGGGGGGGGGGG	GRCh37
NC_000023.9:g.53281043_53281044insGGGGGGGGGGGGGG	NCBI36
NG_021296.1:g.91209_91210insCCCCCCCCCCCCCC
NG_021296.2:g.91219_91220insCCCCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3713_3714insCCCCCCCCCCCCCC	ENSP00000516672.1:p.Glu1243HisfsTer?
ENST00000638521.1:c.1453+651_1453+652insCCCCCCCCCCCCCC
ENST00000638869.1:c.962+651_962+652insCCCCCCCCCCCCCC
ENST00000639796.1:c.316+1190_316+1191insCCCCCCCCCCCCCC	ENSP00000492252.1:n.316+1190_316+1191insCCCCCCCCCCCCCC
ENST00000640005.1:c.514+1190_514+1191insCCCCCCCCCCCCCC	ENSP00000491293.1:n.514+1190_514+1191insCCCCCCCCCCCCCC
ENST00000640436.1:n.534_535insCCCCCCCCCCCCCC
ENST00000640694.1:c.*39_*40insCCCCCCCCCCCCCC	ENSP00000492403.1:n.*39_*40insCCCCCCCCCCCCCC
ENST00000642864.1:c.3554_3555insCCCCCCCCCCCCCC MANE Select	ENSP00000495726.1:p.Glu1190HisfsTer?
ENST00000674510.1:c.3554_3555insCCCCCCCCCCCCCC	ENSP00000502054.1:p.Glu1190HisfsTer?
ENST00000675719.1:c.3524_3525insCCCCCCCCCCCCCC	ENSP00000501927.1:p.Glu1180HisfsTer?
ENST00000375365.2:c.*39_*40insCCCCCCCCCCCCCC	ENSP00000364514.2:n.*39_*40insCCCCCCCCCCCCCC
ENST00000396435.7:c.3554_3555insCCCCCCCCCCCCCC	ENSP00000379712.3:p.Glu1190HisfsTer?
NM_001111125.2:c.3554_3555insCCCCCCCCCCCCCC	NP_001104595.1:p.Glu1190HisfsTer?
NM_015075.1:c.*39_*40insCCCCCCCCCCCCCC	NP_055890.1:n.*39_*40insCCCCCCCCCCCCCC
XM_006724579.2:c.3650_3651insCCCCCCCCCCCCCC	XP_006724642.1:p.Glu1222HisfsTer?
XM_006724580.2:c.2939_2940insCCCCCCCCCCCCCC	XP_006724643.1:p.Glu985HisfsTer?
XM_006724581.2:c.3597+651_3597+652insCCCCCCCCCCCCCC	XP_006724644.1:n.3597+651_3597+652insCCCCCCCCCCCCCC
XM_006724582.2:c.3597+651_3597+652insCCCCCCCCCCCCCC	XP_006724645.1:n.3597+651_3597+652insCCCCCCCCCCCCCC
XM_006724583.2:c.3547+1190_3547+1191insCCCCCCCCCCCCCC	XP_006724646.1:n.3547+1190_3547+1191insCCCCCCCCCCCCCC
XM_006724584.2:c.*39_*40insCCCCCCCCCCCCCC	XP_006724647.1:n.*39_*40insCCCCCCCCCCCCCC
XM_011530772.1:c.2876_2877insCCCCCCCCCCCCCC	XP_011529074.1:p.Glu964HisfsTer?
XM_011530773.1:c.2843_2844insCCCCCCCCCCCCCC	XP_011529075.1:p.Glu953HisfsTer?
XM_011530775.1:c.3547+1190_3547+1191insCCCCCCCCCCCCCC	XP_011529077.1:n.3547+1190_3547+1191insCCCCCCCCCCCCCC
XM_006724579.3:c.3650_3651insCCCCCCCCCCCCCC	XP_006724642.1:p.Glu1222HisfsTer?
XM_006724580.3:c.2939_2940insCCCCCCCCCCCCCC	XP_006724643.1:p.Glu985HisfsTer?
XM_006724581.4:c.3597+651_3597+652insCCCCCCCCCCCCCC	XP_006724644.1:n.3597+651_3597+652insCCCCCCCCCCCCCC
XM_006724582.4:c.3597+651_3597+652insCCCCCCCCCCCCCC	XP_006724645.1:n.3597+651_3597+652insCCCCCCCCCCCCCC
XM_006724583.4:c.3547+1190_3547+1191insCCCCCCCCCCCCCC	XP_006724646.1:n.3547+1190_3547+1191insCCCCCCCCCCCCCC
XM_006724584.3:c.*39_*40insCCCCCCCCCCCCCC	XP_006724647.1:n.*39_*40insCCCCCCCCCCCCCC
XM_011530773.2:c.2843_2844insCCCCCCCCCCCCCC	XP_011529075.1:p.Glu953HisfsTer?
XM_017029359.2:c.3524_3525insCCCCCCCCCCCCCC	XP_016884848.1:p.Glu1180HisfsTer?
XM_017029360.1:c.3056_3057insCCCCCCCCCCCCCC	XP_016884849.1:p.Glu1024HisfsTer?
NM_001111125.3:c.3554_3555insCCCCCCCCCCCCCC MANE Select	NP_001104595.1:p.Glu1190HisfsTer?
NM_015075.2:c.*39_*40insCCCCCCCCCCCCCC	NP_055890.1:n.*39_*40insCCCCCCCCCCCCCC