Canonical Allele Identifier: CA2693794545

Gene: IQSEC2

Linked Data

• gnomAD v4: X-53235128-GGGTGGGGGCGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53235134_53235145del , CM000685.2:g.53235134_53235145del	GRCh38
NC_000023.10:g.53264316_53264327del , CM000685.1:g.53264316_53264327del	GRCh37
NC_000023.9:g.53281041_53281052del	NCBI36
NG_021296.1:g.91201_91212del
NG_021296.2:g.91211_91222del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3705_3716del	ENSP00000516672.1:p.Pro1236_Pro1239del
ENST00000638521.1:c.1453+643_1453+654del
ENST00000638869.1:c.962+643_962+654del
ENST00000639796.1:c.316+1182_316+1193del	ENSP00000492252.1:n.316+1182_316+1193del
ENST00000640005.1:c.514+1182_514+1193del	ENSP00000491293.1:n.514+1182_514+1193del
ENST00000640436.1:n.526_537del
ENST00000640694.1:c.*31_*42del	ENSP00000492403.1:n.*31_*42del
ENST00000642864.1:c.3546_3557del MANE Select	ENSP00000495726.1:p.Pro1183_Pro1186del
ENST00000674510.1:c.3546_3557del	ENSP00000502054.1:p.Pro1183_Pro1186del
ENST00000675719.1:c.3516_3527del	ENSP00000501927.1:p.Pro1173_Pro1176del
ENST00000375365.2:c.*31_*42del	ENSP00000364514.2:n.*31_*42del
ENST00000396435.7:c.3546_3557del	ENSP00000379712.3:p.Pro1183_Pro1186del
NM_001111125.2:c.3546_3557del	NP_001104595.1:p.Pro1183_Pro1186del
NM_015075.1:c.*31_*42del	NP_055890.1:n.*31_*42del
XM_006724579.2:c.3642_3653del	XP_006724642.1:p.Pro1215_Pro1218del
XM_006724580.2:c.2931_2942del	XP_006724643.1:p.Pro978_Pro981del
XM_006724581.2:c.3597+643_3597+654del	XP_006724644.1:n.3597+643_3597+654del
XM_006724582.2:c.3597+643_3597+654del	XP_006724645.1:n.3597+643_3597+654del
XM_006724583.2:c.3547+1182_3547+1193del	XP_006724646.1:n.3547+1182_3547+1193del
XM_006724584.2:c.*31_*42del	XP_006724647.1:n.*31_*42del
XM_011530772.1:c.2868_2879del	XP_011529074.1:p.Pro957_Pro960del
XM_011530773.1:c.2835_2846del	XP_011529075.1:p.Pro946_Pro949del
XM_011530775.1:c.3547+1182_3547+1193del	XP_011529077.1:n.3547+1182_3547+1193del
XM_006724579.3:c.3642_3653del	XP_006724642.1:p.Pro1215_Pro1218del
XM_006724580.3:c.2931_2942del	XP_006724643.1:p.Pro978_Pro981del
XM_006724581.4:c.3597+643_3597+654del	XP_006724644.1:n.3597+643_3597+654del
XM_006724582.4:c.3597+643_3597+654del	XP_006724645.1:n.3597+643_3597+654del
XM_006724583.4:c.3547+1182_3547+1193del	XP_006724646.1:n.3547+1182_3547+1193del
XM_006724584.3:c.*31_*42del	XP_006724647.1:n.*31_*42del
XM_011530773.2:c.2835_2846del	XP_011529075.1:p.Pro946_Pro949del
XM_017029359.2:c.3516_3527del	XP_016884848.1:p.Pro1173_Pro1176del
XM_017029360.1:c.3048_3059del	XP_016884849.1:p.Pro1017_Pro1020del
NM_001111125.3:c.3546_3557del MANE Select	NP_001104595.1:p.Pro1183_Pro1186del
NM_015075.2:c.*31_*42del	NP_055890.1:n.*31_*42del