Canonical Allele Identifier: CA2693794482

Gene: IQSEC2

Linked Data

• gnomAD v4: X-53235122-C-CGGCGTGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53235126_53235127insTGGGGGGGGGCG , CM000685.2:g.53235126_53235127insTGGGGGGGGGCG	GRCh38
NC_000023.10:g.53264308_53264309insTGGGGGGGGGCG , CM000685.1:g.53264308_53264309insTGGGGGGGGGCG	GRCh37
NC_000023.9:g.53281033_53281034insTGGGGGGGGGCG	NCBI36
NG_021296.1:g.91218_91219insCCCCCCCACGCC
NG_021296.2:g.91228_91229insCCCCCCCACGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3722_3723insCCCCCCCACGCC	ENSP00000516672.1:p.Pro1241_Pro1242insProProThrPro
ENST00000638521.1:c.1453+660_1453+661insCCCCCCCACGCC
ENST00000638869.1:c.962+660_962+661insCCCCCCCACGCC
ENST00000639796.1:c.316+1199_316+1200insCCCCCCCACGCC	ENSP00000492252.1:n.316+1199_316+1200insCCCCCCCACGCC
ENST00000640005.1:c.514+1199_514+1200insCCCCCCCACGCC	ENSP00000491293.1:n.514+1199_514+1200insCCCCCCCACGCC
ENST00000640436.1:n.543_544insCCCCCCCACGCC
ENST00000640694.1:c.*48_*49insCCCCCCCACGCC	ENSP00000492403.1:n.*48_*49insCCCCCCCACGCC
ENST00000642864.1:c.3563_3564insCCCCCCCACGCC MANE Select	ENSP00000495726.1:p.Pro1188_Pro1189insProProThrPro
ENST00000674510.1:c.3563_3564insCCCCCCCACGCC	ENSP00000502054.1:p.Pro1188_Pro1189insProProThrPro
ENST00000675719.1:c.3533_3534insCCCCCCCACGCC	ENSP00000501927.1:p.Pro1178_Pro1179insProProThrPro
ENST00000375365.2:c.*48_*49insCCCCCCCACGCC	ENSP00000364514.2:n.*48_*49insCCCCCCCACGCC
ENST00000396435.7:c.3563_3564insCCCCCCCACGCC	ENSP00000379712.3:p.Pro1188_Pro1189insProProThrPro
NM_001111125.2:c.3563_3564insCCCCCCCACGCC	NP_001104595.1:p.Pro1188_Pro1189insProProThrPro
NM_015075.1:c.*48_*49insCCCCCCCACGCC	NP_055890.1:n.*48_*49insCCCCCCCACGCC
XM_006724579.2:c.3659_3660insCCCCCCCACGCC	XP_006724642.1:p.Pro1220_Pro1221insProProThrPro
XM_006724580.2:c.2948_2949insCCCCCCCACGCC	XP_006724643.1:p.Pro983_Pro984insProProThrPro
XM_006724581.2:c.3597+660_3597+661insCCCCCCCACGCC	XP_006724644.1:n.3597+660_3597+661insCCCCCCCACGCC
XM_006724582.2:c.3597+660_3597+661insCCCCCCCACGCC	XP_006724645.1:n.3597+660_3597+661insCCCCCCCACGCC
XM_006724583.2:c.3547+1199_3547+1200insCCCCCCCACGCC	XP_006724646.1:n.3547+1199_3547+1200insCCCCCCCACGCC
XM_006724584.2:c.*48_*49insCCCCCCCACGCC	XP_006724647.1:n.*48_*49insCCCCCCCACGCC
XM_011530772.1:c.2885_2886insCCCCCCCACGCC	XP_011529074.1:p.Pro962_Pro963insProProThrPro
XM_011530773.1:c.2852_2853insCCCCCCCACGCC	XP_011529075.1:p.Pro951_Pro952insProProThrPro
XM_011530775.1:c.3547+1199_3547+1200insCCCCCCCACGCC	XP_011529077.1:n.3547+1199_3547+1200insCCCCCCCACGCC
XM_006724579.3:c.3659_3660insCCCCCCCACGCC	XP_006724642.1:p.Pro1220_Pro1221insProProThrPro
XM_006724580.3:c.2948_2949insCCCCCCCACGCC	XP_006724643.1:p.Pro983_Pro984insProProThrPro
XM_006724581.4:c.3597+660_3597+661insCCCCCCCACGCC	XP_006724644.1:n.3597+660_3597+661insCCCCCCCACGCC
XM_006724582.4:c.3597+660_3597+661insCCCCCCCACGCC	XP_006724645.1:n.3597+660_3597+661insCCCCCCCACGCC
XM_006724583.4:c.3547+1199_3547+1200insCCCCCCCACGCC	XP_006724646.1:n.3547+1199_3547+1200insCCCCCCCACGCC
XM_006724584.3:c.*48_*49insCCCCCCCACGCC	XP_006724647.1:n.*48_*49insCCCCCCCACGCC
XM_011530773.2:c.2852_2853insCCCCCCCACGCC	XP_011529075.1:p.Pro951_Pro952insProProThrPro
XM_017029359.2:c.3533_3534insCCCCCCCACGCC	XP_016884848.1:p.Pro1178_Pro1179insProProThrPro
XM_017029360.1:c.3065_3066insCCCCCCCACGCC	XP_016884849.1:p.Pro1022_Pro1023insProProThrPro
NM_001111125.3:c.3563_3564insCCCCCCCACGCC MANE Select	NP_001104595.1:p.Pro1188_Pro1189insProProThrPro
NM_015075.2:c.*48_*49insCCCCCCCACGCC	NP_055890.1:n.*48_*49insCCCCCCCACGCC