Canonical Allele Identifier: CA2693794370

Gene: IQSEC2

Linked Data

• gnomAD v4: X-53235097-GCCTCTGGCTCTTGTACTCCTCTGGCGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53235098_53235125del , CM000685.2:g.53235098_53235125del	GRCh38
NC_000023.10:g.53264280_53264307del , CM000685.1:g.53264280_53264307del	GRCh37
NC_000023.9:g.53281005_53281032del	NCBI36
NG_021296.1:g.91216_91243del
NG_021296.2:g.91226_91253del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3720_3747del	ENSP00000516672.1:p.Pro1242SerfsTer?
ENST00000638521.1:c.1453+658_1453+685del
ENST00000638869.1:c.962+658_962+685del
ENST00000639796.1:c.316+1197_316+1224del	ENSP00000492252.1:n.316+1197_316+1224del
ENST00000640005.1:c.514+1197_514+1224del	ENSP00000491293.1:n.514+1197_514+1224del
ENST00000640436.1:n.541_568del
ENST00000640694.1:c.*46_*73del	ENSP00000492403.1:n.*46_*73del
ENST00000642864.1:c.3561_3588del MANE Select	ENSP00000495726.1:p.Pro1189SerfsTer?
ENST00000674510.1:c.3561_3588del	ENSP00000502054.1:p.Pro1189SerfsTer?
ENST00000675719.1:c.3531_3558del	ENSP00000501927.1:p.Pro1179SerfsTer?
ENST00000375365.2:c.*46_*73del	ENSP00000364514.2:n.*46_*73del
ENST00000396435.7:c.3561_3588del	ENSP00000379712.3:p.Pro1189SerfsTer?
NM_001111125.2:c.3561_3588del	NP_001104595.1:p.Pro1189SerfsTer?
NM_015075.1:c.*46_*73del	NP_055890.1:n.*46_*73del
XM_006724579.2:c.3657_3684del	XP_006724642.1:p.Pro1221SerfsTer?
XM_006724580.2:c.2946_2973del	XP_006724643.1:p.Pro984SerfsTer?
XM_006724581.2:c.3597+658_3597+685del	XP_006724644.1:n.3597+658_3597+685del
XM_006724582.2:c.3597+658_3597+685del	XP_006724645.1:n.3597+658_3597+685del
XM_006724583.2:c.3547+1197_3547+1224del	XP_006724646.1:n.3547+1197_3547+1224del
XM_006724584.2:c.*46_*73del	XP_006724647.1:n.*46_*73del
XM_011530772.1:c.2883_2910del	XP_011529074.1:p.Pro963SerfsTer?
XM_011530773.1:c.2850_2877del	XP_011529075.1:p.Pro952SerfsTer?
XM_011530775.1:c.3547+1197_3547+1224del	XP_011529077.1:n.3547+1197_3547+1224del
XM_006724579.3:c.3657_3684del	XP_006724642.1:p.Pro1221SerfsTer?
XM_006724580.3:c.2946_2973del	XP_006724643.1:p.Pro984SerfsTer?
XM_006724581.4:c.3597+658_3597+685del	XP_006724644.1:n.3597+658_3597+685del
XM_006724582.4:c.3597+658_3597+685del	XP_006724645.1:n.3597+658_3597+685del
XM_006724583.4:c.3547+1197_3547+1224del	XP_006724646.1:n.3547+1197_3547+1224del
XM_006724584.3:c.*46_*73del	XP_006724647.1:n.*46_*73del
XM_011530773.2:c.2850_2877del	XP_011529075.1:p.Pro952SerfsTer?
XM_017029359.2:c.3531_3558del	XP_016884848.1:p.Pro1179SerfsTer?
XM_017029360.1:c.3063_3090del	XP_016884849.1:p.Pro1023SerfsTer?
NM_001111125.3:c.3561_3588del MANE Select	NP_001104595.1:p.Pro1189SerfsTer?
NM_015075.2:c.*46_*73del	NP_055890.1:n.*46_*73del