Canonical Allele Identifier: CA2695234293
Gene: IQSEC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53243330_53243331delinsTCCAACAATTGT , CM000685.2:g.53243330_53243331delinsTCCAACAATTGT GRCh38
NC_000023.10:g.53272512_53272513delinsTCCAACAATTGT , CM000685.1:g.53272512_53272513delinsTCCAACAATTGT GRCh37
NC_000023.9:g.53289237_53289238delinsTCCAACAATTGT NCBI36
NG_021296.1:g.83010_83011delinsACAATTGTTGGA
NG_021296.2:g.83020_83021delinsACAATTGTTGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.3048+1_3048+2delinsACAATTGTTGGA ENSP00000516672.1:n.3048+1_3048+2delinsACAATTGTTGGA
ENST00000638521.1:c.841+1_841+2delinsACAATTGTTGGA
ENST00000638869.1:c.350+1_350+2delinsACAATTGTTGGA
ENST00000639642.1:c.179+1_179+2delinsACAATTGTTGGA
ENST00000640694.1:c.2889+1_2889+2delinsACAATTGTTGGA ENSP00000492403.1:n.2889+1_2889+2delinsACAATTGTTGGA
ENST00000642864.1:c.2889+1_2889+2delinsACAATTGTTGGA MANE Select ENSP00000495726.1:n.2889+1_2889+2delinsACAATTGTTGGA
ENST00000674510.1:c.2889+1_2889+2delinsACAATTGTTGGA ENSP00000502054.1:n.2889+1_2889+2delinsACAATTGTTGGA
ENST00000674761.1:n.641_642delinsACAATTGTTGGA
ENST00000675719.1:c.2859+1_2859+2delinsACAATTGTTGGA ENSP00000501927.1:n.2859+1_2859+2delinsACAATTGTTGGA
ENST00000375365.2:c.2274+1_2274+2delinsACAATTGTTGGA ENSP00000364514.2:n.2274+1_2274+2delinsACAATTGTTGGA
ENST00000396435.7:c.2889+1_2889+2delinsACAATTGTTGGA ENSP00000379712.3:n.2889+1_2889+2delinsACAATTGTTGGA
NM_001111125.2:c.2889+1_2889+2delinsACAATTGTTGGA NP_001104595.1:n.2889+1_2889+2delinsACAATTGTTGGA
NM_015075.1:c.2274+1_2274+2delinsACAATTGTTGGA NP_055890.1:n.2274+1_2274+2delinsACAATTGTTGGA
XM_006724579.2:c.2985+1_2985+2delinsACAATTGTTGGA XP_006724642.1:n.2985+1_2985+2delinsACAATTGTTGGA
XM_006724580.2:c.2274+1_2274+2delinsACAATTGTTGGA XP_006724643.1:n.2274+1_2274+2delinsACAATTGTTGGA
XM_006724581.2:c.2985+1_2985+2delinsACAATTGTTGGA XP_006724644.1:n.2985+1_2985+2delinsACAATTGTTGGA
XM_006724582.2:c.2985+1_2985+2delinsACAATTGTTGGA XP_006724645.1:n.2985+1_2985+2delinsACAATTGTTGGA
XM_006724583.2:c.2985+1_2985+2delinsACAATTGTTGGA XP_006724646.1:n.2985+1_2985+2delinsACAATTGTTGGA
XM_006724584.2:c.2985+1_2985+2delinsACAATTGTTGGA XP_006724647.1:n.2985+1_2985+2delinsACAATTGTTGGA
XM_011530772.1:c.2211+1_2211+2delinsACAATTGTTGGA XP_011529074.1:n.2211+1_2211+2delinsACAATTGTTGGA
XM_011530773.1:c.2178+1_2178+2delinsACAATTGTTGGA XP_011529075.1:n.2178+1_2178+2delinsACAATTGTTGGA
XM_011530774.1:c.2985+1_2985+2delinsACAATTGTTGGA XP_011529076.1:n.2985+1_2985+2delinsACAATTGTTGGA
XM_011530775.1:c.2985+1_2985+2delinsACAATTGTTGGA XP_011529077.1:n.2985+1_2985+2delinsACAATTGTTGGA
XM_011530776.1:c.2985+1_2985+2delinsACAATTGTTGGA XP_011529078.1:n.2985+1_2985+2delinsACAATTGTTGGA
XM_011530777.1:c.2985+1_2985+2delinsACAATTGTTGGA XP_011529079.1:n.2985+1_2985+2delinsACAATTGTTGGA
XR_938365.1:n.3212+1_3212+2delinsACAATTGTTGGA
XM_006724579.3:c.2985+1_2985+2delinsACAATTGTTGGA XP_006724642.1:n.2985+1_2985+2delinsACAATTGTTGGA
XM_006724580.3:c.2274+1_2274+2delinsACAATTGTTGGA XP_006724643.1:n.2274+1_2274+2delinsACAATTGTTGGA
XM_006724581.4:c.2985+1_2985+2delinsACAATTGTTGGA XP_006724644.1:n.2985+1_2985+2delinsACAATTGTTGGA
XM_006724582.4:c.2985+1_2985+2delinsACAATTGTTGGA XP_006724645.1:n.2985+1_2985+2delinsACAATTGTTGGA
XM_006724583.4:c.2985+1_2985+2delinsACAATTGTTGGA XP_006724646.1:n.2985+1_2985+2delinsACAATTGTTGGA
XM_006724584.3:c.2985+1_2985+2delinsACAATTGTTGGA XP_006724647.1:n.2985+1_2985+2delinsACAATTGTTGGA
XM_011530773.2:c.2178+1_2178+2delinsACAATTGTTGGA XP_011529075.1:n.2178+1_2178+2delinsACAATTGTTGGA
XM_011530774.3:c.2985+1_2985+2delinsACAATTGTTGGA XP_011529076.1:n.2985+1_2985+2delinsACAATTGTTGGA
XM_011530776.2:c.2985+1_2985+2delinsACAATTGTTGGA XP_011529078.1:n.2985+1_2985+2delinsACAATTGTTGGA
XM_011530777.2:c.2985+1_2985+2delinsACAATTGTTGGA XP_011529079.1:n.2985+1_2985+2delinsACAATTGTTGGA
XM_017029359.2:c.2859+1_2859+2delinsACAATTGTTGGA XP_016884848.1:n.2859+1_2859+2delinsACAATTGTTGGA
XM_017029360.1:c.2391+1_2391+2delinsACAATTGTTGGA XP_016884849.1:n.2391+1_2391+2delinsACAATTGTTGGA
XR_938365.2:n.3206+1_3206+2delinsACAATTGTTGGA
NM_001111125.3:c.2889+1_2889+2delinsACAATTGTTGGA MANE Select NP_001104595.1:n.2889+1_2889+2delinsACAATTGTTGGA
NM_015075.2:c.2274+1_2274+2delinsACAATTGTTGGA NP_055890.1:n.2274+1_2274+2delinsACAATTGTTGGA