Canonical Allele Identifier: CA2695234288
Gene: IQSEC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53234908del , CM000685.2:g.53234908del GRCh38
NC_000023.10:g.53264090del , CM000685.1:g.53264090del GRCh37
NC_000023.9:g.53280815del NCBI36
NG_021296.1:g.91435del
NG_021296.2:g.91445del

Transcript Alleles

HGVS Amino-acid change
ENST00000706952.1:c.3939del ENSP00000516672.1:p.Gln1314SerfsTer?
ENST00000638521.1:c.1453+877del
ENST00000638869.1:c.962+877del
ENST00000639796.1:c.316+1416del ENSP00000492252.1:n.316+1416del
ENST00000640005.1:c.514+1416del ENSP00000491293.1:n.514+1416del
ENST00000640694.1:c.*265del ENSP00000492403.1:n.*265del
ENST00000642864.1:c.3780del MANE Select ENSP00000495726.1:p.Gln1261SerfsTer?
ENST00000674510.1:c.3780del ENSP00000502054.1:p.Gln1261SerfsTer?
ENST00000675719.1:c.3750del ENSP00000501927.1:p.Gln1251SerfsTer?
ENST00000375365.2:c.*265del ENSP00000364514.2:n.*265del
ENST00000396435.7:c.3780del ENSP00000379712.3:p.Gln1261SerfsTer?
NM_001111125.2:c.3780del NP_001104595.1:p.Gln1261SerfsTer?
NM_015075.1:c.*265del NP_055890.1:n.*265del
XM_006724579.2:c.3876del XP_006724642.1:p.Gln1293SerfsTer?
XM_006724580.2:c.3165del XP_006724643.1:p.Gln1056SerfsTer?
XM_006724581.2:c.3597+877del XP_006724644.1:n.3597+877del
XM_006724582.2:c.3597+877del XP_006724645.1:n.3597+877del
XM_006724583.2:c.3547+1416del XP_006724646.1:n.3547+1416del
XM_006724584.2:c.*265del XP_006724647.1:n.*265del
XM_011530772.1:c.3102del XP_011529074.1:p.Gln1035SerfsTer?
XM_011530773.1:c.3069del XP_011529075.1:p.Gln1024SerfsTer?
XM_011530775.1:c.3547+1416del XP_011529077.1:n.3547+1416del
XM_006724579.3:c.3876del XP_006724642.1:p.Gln1293SerfsTer?
XM_006724580.3:c.3165del XP_006724643.1:p.Gln1056SerfsTer?
XM_006724581.4:c.3597+877del XP_006724644.1:n.3597+877del
XM_006724582.4:c.3597+877del XP_006724645.1:n.3597+877del
XM_006724583.4:c.3547+1416del XP_006724646.1:n.3547+1416del
XM_006724584.3:c.*265del XP_006724647.1:n.*265del
XM_011530773.2:c.3069del XP_011529075.1:p.Gln1024SerfsTer?
XM_017029359.2:c.3750del XP_016884848.1:p.Gln1251SerfsTer?
XM_017029360.1:c.3282del XP_016884849.1:p.Gln1095SerfsTer?
NM_001111125.3:c.3780del MANE Select NP_001104595.1:p.Gln1261SerfsTer?
NM_015075.2:c.*265del NP_055890.1:n.*265del