Canonical Allele Identifier: CA2693794287

Gene: IQSEC2

Linked Data

• gnomAD v4: X-53234792-TGGGGGCTGCTGGGGAGGTGGGGGAAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53234794_53234820del , CM000685.2:g.53234794_53234820del	GRCh38
NC_000023.10:g.53263976_53264002del , CM000685.1:g.53263976_53264002del	GRCh37
NC_000023.9:g.53280701_53280727del	NCBI36
NG_021296.1:g.91522_91548del
NG_021296.2:g.91532_91558del

Transcript Alleles

HGVS	Amino-acid change
ENST00000706952.1:c.4026_4052del	ENSP00000516672.1:p.Leu1343_Pro1351del
ENST00000638521.1:c.1453+964_1453+990del
ENST00000638869.1:c.962+964_962+990del
ENST00000639796.1:c.316+1503_316+1529del	ENSP00000492252.1:n.316+1503_316+1529del
ENST00000640005.1:c.514+1503_514+1529del	ENSP00000491293.1:n.514+1503_514+1529del
ENST00000640694.1:c.*352_*378del	ENSP00000492403.1:n.*352_*378del
ENST00000642864.1:c.3867_3893del MANE Select	ENSP00000495726.1:p.Leu1290_Pro1298del
ENST00000674510.1:c.3867_3893del	ENSP00000502054.1:p.Leu1290_Pro1298del
ENST00000675719.1:c.3837_3863del	ENSP00000501927.1:p.Leu1280_Pro1288del
ENST00000375365.2:c.*352_*378del	ENSP00000364514.2:n.*352_*378del
ENST00000396435.7:c.3867_3893del	ENSP00000379712.3:p.Leu1290_Pro1298del
NM_001111125.2:c.3867_3893del	NP_001104595.1:p.Leu1290_Pro1298del
NM_015075.1:c.*352_*378del	NP_055890.1:n.*352_*378del
XM_006724579.2:c.3963_3989del	XP_006724642.1:p.Leu1322_Pro1330del
XM_006724580.2:c.3252_3278del	XP_006724643.1:p.Leu1085_Pro1093del
XM_006724581.2:c.3597+964_3597+990del	XP_006724644.1:n.3597+964_3597+990del
XM_006724582.2:c.3597+964_3597+990del	XP_006724645.1:n.3597+964_3597+990del
XM_006724583.2:c.3547+1503_3547+1529del	XP_006724646.1:n.3547+1503_3547+1529del
XM_006724584.2:c.*352_*378del	XP_006724647.1:n.*352_*378del
XM_011530772.1:c.3189_3215del	XP_011529074.1:p.Leu1064_Pro1072del
XM_011530773.1:c.3156_3182del	XP_011529075.1:p.Leu1053_Pro1061del
XM_011530775.1:c.3547+1503_3547+1529del	XP_011529077.1:n.3547+1503_3547+1529del
XM_006724579.3:c.3963_3989del	XP_006724642.1:p.Leu1322_Pro1330del
XM_006724580.3:c.3252_3278del	XP_006724643.1:p.Leu1085_Pro1093del
XM_006724581.4:c.3597+964_3597+990del	XP_006724644.1:n.3597+964_3597+990del
XM_006724582.4:c.3597+964_3597+990del	XP_006724645.1:n.3597+964_3597+990del
XM_006724583.4:c.3547+1503_3547+1529del	XP_006724646.1:n.3547+1503_3547+1529del
XM_006724584.3:c.*352_*378del	XP_006724647.1:n.*352_*378del
XM_011530773.2:c.3156_3182del	XP_011529075.1:p.Leu1053_Pro1061del
XM_017029359.2:c.3837_3863del	XP_016884848.1:p.Leu1280_Pro1288del
XM_017029360.1:c.3369_3395del	XP_016884849.1:p.Leu1124_Pro1132del
NM_001111125.3:c.3867_3893del MANE Select	NP_001104595.1:p.Leu1290_Pro1298del
NM_015075.2:c.*352_*378del	NP_055890.1:n.*352_*378del