Canonical Allele Identifier: CA2693794476

Gene: IQSEC2

Linked Data

• gnomAD v4: X-53235122-C-CGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53235124_53235125insGGGGGGG , CM000685.2:g.53235124_53235125insGGGGGGG	GRCh38
NC_000023.10:g.53264306_53264307insGGGGGGG , CM000685.1:g.53264306_53264307insGGGGGGG	GRCh37
NC_000023.9:g.53281031_53281032insGGGGGGG	NCBI36
NG_021296.1:g.91218_91219insCCCCCCC
NG_021296.2:g.91228_91229insCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3722_3723insCCCCCCC	ENSP00000516672.1:p.Glu1243ProfsTer?
ENST00000638521.1:c.1453+660_1453+661insCCCCCCC
ENST00000638869.1:c.962+660_962+661insCCCCCCC
ENST00000639796.1:c.316+1199_316+1200insCCCCCCC	ENSP00000492252.1:n.316+1199_316+1200insCCCCCCC
ENST00000640005.1:c.514+1199_514+1200insCCCCCCC	ENSP00000491293.1:n.514+1199_514+1200insCCCCCCC
ENST00000640436.1:n.543_544insCCCCCCC
ENST00000640694.1:c.*48_*49insCCCCCCC	ENSP00000492403.1:n.*48_*49insCCCCCCC
ENST00000642864.1:c.3563_3564insCCCCCCC MANE Select	ENSP00000495726.1:p.Glu1190ProfsTer?
ENST00000674510.1:c.3563_3564insCCCCCCC	ENSP00000502054.1:p.Glu1190ProfsTer?
ENST00000675719.1:c.3533_3534insCCCCCCC	ENSP00000501927.1:p.Glu1180ProfsTer?
ENST00000375365.2:c.*48_*49insCCCCCCC	ENSP00000364514.2:n.*48_*49insCCCCCCC
ENST00000396435.7:c.3563_3564insCCCCCCC	ENSP00000379712.3:p.Glu1190ProfsTer?
NM_001111125.2:c.3563_3564insCCCCCCC	NP_001104595.1:p.Glu1190ProfsTer?
NM_015075.1:c.*48_*49insCCCCCCC	NP_055890.1:n.*48_*49insCCCCCCC
XM_006724579.2:c.3659_3660insCCCCCCC	XP_006724642.1:p.Glu1222ProfsTer?
XM_006724580.2:c.2948_2949insCCCCCCC	XP_006724643.1:p.Glu985ProfsTer?
XM_006724581.2:c.3597+660_3597+661insCCCCCCC	XP_006724644.1:n.3597+660_3597+661insCCCCCCC
XM_006724582.2:c.3597+660_3597+661insCCCCCCC	XP_006724645.1:n.3597+660_3597+661insCCCCCCC
XM_006724583.2:c.3547+1199_3547+1200insCCCCCCC	XP_006724646.1:n.3547+1199_3547+1200insCCCCCCC
XM_006724584.2:c.*48_*49insCCCCCCC	XP_006724647.1:n.*48_*49insCCCCCCC
XM_011530772.1:c.2885_2886insCCCCCCC	XP_011529074.1:p.Glu964ProfsTer?
XM_011530773.1:c.2852_2853insCCCCCCC	XP_011529075.1:p.Glu953ProfsTer?
XM_011530775.1:c.3547+1199_3547+1200insCCCCCCC	XP_011529077.1:n.3547+1199_3547+1200insCCCCCCC
XM_006724579.3:c.3659_3660insCCCCCCC	XP_006724642.1:p.Glu1222ProfsTer?
XM_006724580.3:c.2948_2949insCCCCCCC	XP_006724643.1:p.Glu985ProfsTer?
XM_006724581.4:c.3597+660_3597+661insCCCCCCC	XP_006724644.1:n.3597+660_3597+661insCCCCCCC
XM_006724582.4:c.3597+660_3597+661insCCCCCCC	XP_006724645.1:n.3597+660_3597+661insCCCCCCC
XM_006724583.4:c.3547+1199_3547+1200insCCCCCCC	XP_006724646.1:n.3547+1199_3547+1200insCCCCCCC
XM_006724584.3:c.*48_*49insCCCCCCC	XP_006724647.1:n.*48_*49insCCCCCCC
XM_011530773.2:c.2852_2853insCCCCCCC	XP_011529075.1:p.Glu953ProfsTer?
XM_017029359.2:c.3533_3534insCCCCCCC	XP_016884848.1:p.Glu1180ProfsTer?
XM_017029360.1:c.3065_3066insCCCCCCC	XP_016884849.1:p.Glu1024ProfsTer?
NM_001111125.3:c.3563_3564insCCCCCCC MANE Select	NP_001104595.1:p.Glu1190ProfsTer?
NM_015075.2:c.*48_*49insCCCCCCC	NP_055890.1:n.*48_*49insCCCCCCC