Canonical Allele Identifier: CA2693794425

Gene: IQSEC2

Linked Data

• gnomAD v4: X-53235118-CTGGCGGCGGGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53235122_53235133del , CM000685.2:g.53235122_53235133del	GRCh38
NC_000023.10:g.53264304_53264315del , CM000685.1:g.53264304_53264315del	GRCh37
NC_000023.9:g.53281029_53281040del	NCBI36
NG_021296.1:g.91211_91222del
NG_021296.2:g.91221_91232del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3715_3726del	ENSP00000516672.1:p.Pro1239_Pro1242del
ENST00000638521.1:c.1453+653_1453+664del
ENST00000638869.1:c.962+653_962+664del
ENST00000639796.1:c.316+1192_316+1203del	ENSP00000492252.1:n.316+1192_316+1203del
ENST00000640005.1:c.514+1192_514+1203del	ENSP00000491293.1:n.514+1192_514+1203del
ENST00000640436.1:n.536_547del
ENST00000640694.1:c.*41_*52del	ENSP00000492403.1:n.*41_*52del
ENST00000642864.1:c.3556_3567del MANE Select	ENSP00000495726.1:p.Pro1186_Pro1189del
ENST00000674510.1:c.3556_3567del	ENSP00000502054.1:p.Pro1186_Pro1189del
ENST00000675719.1:c.3526_3537del	ENSP00000501927.1:p.Pro1176_Pro1179del
ENST00000375365.2:c.*41_*52del	ENSP00000364514.2:n.*41_*52del
ENST00000396435.7:c.3556_3567del	ENSP00000379712.3:p.Pro1186_Pro1189del
NM_001111125.2:c.3556_3567del	NP_001104595.1:p.Pro1186_Pro1189del
NM_015075.1:c.*41_*52del	NP_055890.1:n.*41_*52del
XM_006724579.2:c.3652_3663del	XP_006724642.1:p.Pro1218_Pro1221del
XM_006724580.2:c.2941_2952del	XP_006724643.1:p.Pro981_Pro984del
XM_006724581.2:c.3597+653_3597+664del	XP_006724644.1:n.3597+653_3597+664del
XM_006724582.2:c.3597+653_3597+664del	XP_006724645.1:n.3597+653_3597+664del
XM_006724583.2:c.3547+1192_3547+1203del	XP_006724646.1:n.3547+1192_3547+1203del
XM_006724584.2:c.*41_*52del	XP_006724647.1:n.*41_*52del
XM_011530772.1:c.2878_2889del	XP_011529074.1:p.Pro960_Pro963del
XM_011530773.1:c.2845_2856del	XP_011529075.1:p.Pro949_Pro952del
XM_011530775.1:c.3547+1192_3547+1203del	XP_011529077.1:n.3547+1192_3547+1203del
XM_006724579.3:c.3652_3663del	XP_006724642.1:p.Pro1218_Pro1221del
XM_006724580.3:c.2941_2952del	XP_006724643.1:p.Pro981_Pro984del
XM_006724581.4:c.3597+653_3597+664del	XP_006724644.1:n.3597+653_3597+664del
XM_006724582.4:c.3597+653_3597+664del	XP_006724645.1:n.3597+653_3597+664del
XM_006724583.4:c.3547+1192_3547+1203del	XP_006724646.1:n.3547+1192_3547+1203del
XM_006724584.3:c.*41_*52del	XP_006724647.1:n.*41_*52del
XM_011530773.2:c.2845_2856del	XP_011529075.1:p.Pro949_Pro952del
XM_017029359.2:c.3526_3537del	XP_016884848.1:p.Pro1176_Pro1179del
XM_017029360.1:c.3058_3069del	XP_016884849.1:p.Pro1020_Pro1023del
NM_001111125.3:c.3556_3567del MANE Select	NP_001104595.1:p.Pro1186_Pro1189del
NM_015075.2:c.*41_*52del	NP_055890.1:n.*41_*52del