Canonical Allele Identifier: CA2693794608

Gene: IQSEC2

Linked Data

• gnomAD v4: X-53235134-GGGCGGAGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53235138_53235146del , CM000685.2:g.53235138_53235146del	GRCh38
NC_000023.10:g.53264320_53264328del , CM000685.1:g.53264320_53264328del	GRCh37
NC_000023.9:g.53281045_53281053del	NCBI36
NG_021296.1:g.91198_91206del
NG_021296.2:g.91208_91216del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3702_3710del	ENSP00000516672.1:p.Pro1235_Pro1237del
ENST00000638521.1:c.1453+640_1453+648del
ENST00000638869.1:c.962+640_962+648del
ENST00000639796.1:c.316+1179_316+1187del	ENSP00000492252.1:n.316+1179_316+1187del
ENST00000640005.1:c.514+1179_514+1187del	ENSP00000491293.1:n.514+1179_514+1187del
ENST00000640436.1:n.523_531del
ENST00000640694.1:c.*28_*36del	ENSP00000492403.1:n.*28_*36del
ENST00000642864.1:c.3543_3551del MANE Select	ENSP00000495726.1:p.Pro1182_Pro1184del
ENST00000674510.1:c.3543_3551del	ENSP00000502054.1:p.Pro1182_Pro1184del
ENST00000675719.1:c.3513_3521del	ENSP00000501927.1:p.Pro1172_Pro1174del
ENST00000375365.2:c.*28_*36del	ENSP00000364514.2:n.*28_*36del
ENST00000396435.7:c.3543_3551del	ENSP00000379712.3:p.Pro1182_Pro1184del
NM_001111125.2:c.3543_3551del	NP_001104595.1:p.Pro1182_Pro1184del
NM_015075.1:c.*28_*36del	NP_055890.1:n.*28_*36del
XM_006724579.2:c.3639_3647del	XP_006724642.1:p.Pro1214_Pro1216del
XM_006724580.2:c.2928_2936del	XP_006724643.1:p.Pro977_Pro979del
XM_006724581.2:c.3597+640_3597+648del	XP_006724644.1:n.3597+640_3597+648del
XM_006724582.2:c.3597+640_3597+648del	XP_006724645.1:n.3597+640_3597+648del
XM_006724583.2:c.3547+1179_3547+1187del	XP_006724646.1:n.3547+1179_3547+1187del
XM_006724584.2:c.*28_*36del	XP_006724647.1:n.*28_*36del
XM_011530772.1:c.2865_2873del	XP_011529074.1:p.Pro956_Pro958del
XM_011530773.1:c.2832_2840del	XP_011529075.1:p.Pro945_Pro947del
XM_011530775.1:c.3547+1179_3547+1187del	XP_011529077.1:n.3547+1179_3547+1187del
XM_006724579.3:c.3639_3647del	XP_006724642.1:p.Pro1214_Pro1216del
XM_006724580.3:c.2928_2936del	XP_006724643.1:p.Pro977_Pro979del
XM_006724581.4:c.3597+640_3597+648del	XP_006724644.1:n.3597+640_3597+648del
XM_006724582.4:c.3597+640_3597+648del	XP_006724645.1:n.3597+640_3597+648del
XM_006724583.4:c.3547+1179_3547+1187del	XP_006724646.1:n.3547+1179_3547+1187del
XM_006724584.3:c.*28_*36del	XP_006724647.1:n.*28_*36del
XM_011530773.2:c.2832_2840del	XP_011529075.1:p.Pro945_Pro947del
XM_017029359.2:c.3513_3521del	XP_016884848.1:p.Pro1172_Pro1174del
XM_017029360.1:c.3045_3053del	XP_016884849.1:p.Pro1016_Pro1018del
NM_001111125.3:c.3543_3551del MANE Select	NP_001104595.1:p.Pro1182_Pro1184del
NM_015075.2:c.*28_*36del	NP_055890.1:n.*28_*36del