Canonical Allele Identifier: CA2693794568

Gene: IQSEC2

Linked Data

• gnomAD v4: X-53235131-TGGGGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53235134_53235139del , CM000685.2:g.53235134_53235139del	GRCh38
NC_000023.10:g.53264316_53264321del , CM000685.1:g.53264316_53264321del	GRCh37
NC_000023.9:g.53281041_53281046del	NCBI36
NG_021296.1:g.91204_91209del
NG_021296.2:g.91214_91219del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3708_3713del	ENSP00000516672.1:p.Pro1237_Pro1238del
ENST00000638521.1:c.1453+646_1453+651del
ENST00000638869.1:c.962+646_962+651del
ENST00000639796.1:c.316+1185_316+1190del	ENSP00000492252.1:n.316+1185_316+1190del
ENST00000640005.1:c.514+1185_514+1190del	ENSP00000491293.1:n.514+1185_514+1190del
ENST00000640436.1:n.529_534del
ENST00000640694.1:c.*34_*39del	ENSP00000492403.1:n.*34_*39del
ENST00000642864.1:c.3549_3554del MANE Select	ENSP00000495726.1:p.Pro1184_Pro1185del
ENST00000674510.1:c.3549_3554del	ENSP00000502054.1:p.Pro1184_Pro1185del
ENST00000675719.1:c.3519_3524del	ENSP00000501927.1:p.Pro1174_Pro1175del
ENST00000375365.2:c.*34_*39del	ENSP00000364514.2:n.*34_*39del
ENST00000396435.7:c.3549_3554del	ENSP00000379712.3:p.Pro1184_Pro1185del
NM_001111125.2:c.3549_3554del	NP_001104595.1:p.Pro1184_Pro1185del
NM_015075.1:c.*34_*39del	NP_055890.1:n.*34_*39del
XM_006724579.2:c.3645_3650del	XP_006724642.1:p.Pro1216_Pro1217del
XM_006724580.2:c.2934_2939del	XP_006724643.1:p.Pro979_Pro980del
XM_006724581.2:c.3597+646_3597+651del	XP_006724644.1:n.3597+646_3597+651del
XM_006724582.2:c.3597+646_3597+651del	XP_006724645.1:n.3597+646_3597+651del
XM_006724583.2:c.3547+1185_3547+1190del	XP_006724646.1:n.3547+1185_3547+1190del
XM_006724584.2:c.*34_*39del	XP_006724647.1:n.*34_*39del
XM_011530772.1:c.2871_2876del	XP_011529074.1:p.Pro958_Pro959del
XM_011530773.1:c.2838_2843del	XP_011529075.1:p.Pro947_Pro948del
XM_011530775.1:c.3547+1185_3547+1190del	XP_011529077.1:n.3547+1185_3547+1190del
XM_006724579.3:c.3645_3650del	XP_006724642.1:p.Pro1216_Pro1217del
XM_006724580.3:c.2934_2939del	XP_006724643.1:p.Pro979_Pro980del
XM_006724581.4:c.3597+646_3597+651del	XP_006724644.1:n.3597+646_3597+651del
XM_006724582.4:c.3597+646_3597+651del	XP_006724645.1:n.3597+646_3597+651del
XM_006724583.4:c.3547+1185_3547+1190del	XP_006724646.1:n.3547+1185_3547+1190del
XM_006724584.3:c.*34_*39del	XP_006724647.1:n.*34_*39del
XM_011530773.2:c.2838_2843del	XP_011529075.1:p.Pro947_Pro948del
XM_017029359.2:c.3519_3524del	XP_016884848.1:p.Pro1174_Pro1175del
XM_017029360.1:c.3051_3056del	XP_016884849.1:p.Pro1018_Pro1019del
NM_001111125.3:c.3549_3554del MANE Select	NP_001104595.1:p.Pro1184_Pro1185del
NM_015075.2:c.*34_*39del	NP_055890.1:n.*34_*39del