Canonical Allele Identifier: CA2693794443

Gene: IQSEC2

Linked Data

• gnomAD v4: X-53235119-T-TGGAGGAGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53235121_53235122insAGGAGGGGGGGG , CM000685.2:g.53235121_53235122insAGGAGGGGGGGG	GRCh38
NC_000023.10:g.53264303_53264304insAGGAGGGGGGGG , CM000685.1:g.53264303_53264304insAGGAGGGGGGGG	GRCh37
NC_000023.9:g.53281028_53281029insAGGAGGGGGGGG	NCBI36
NG_021296.1:g.91221_91222insCCCCCCTCCTCC
NG_021296.2:g.91231_91232insCCCCCCTCCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3725_3726insCCCCCCTCCTCC	ENSP00000516672.1:p.Pro1242_Glu1243insProProProPro
ENST00000638521.1:c.1453+663_1453+664insCCCCCCTCCTCC
ENST00000638869.1:c.962+663_962+664insCCCCCCTCCTCC
ENST00000639796.1:c.316+1202_316+1203insCCCCCCTCCTCC	ENSP00000492252.1:n.316+1202_316+1203insCCCCCCTCCTCC
ENST00000640005.1:c.514+1202_514+1203insCCCCCCTCCTCC	ENSP00000491293.1:n.514+1202_514+1203insCCCCCCTCCTCC
ENST00000640436.1:n.546_547insCCCCCCTCCTCC
ENST00000640694.1:c.*51_*52insCCCCCCTCCTCC	ENSP00000492403.1:n.*51_*52insCCCCCCTCCTCC
ENST00000642864.1:c.3566_3567insCCCCCCTCCTCC MANE Select	ENSP00000495726.1:p.Pro1189_Glu1190insProProProPro
ENST00000674510.1:c.3566_3567insCCCCCCTCCTCC	ENSP00000502054.1:p.Pro1189_Glu1190insProProProPro
ENST00000675719.1:c.3536_3537insCCCCCCTCCTCC	ENSP00000501927.1:p.Pro1179_Glu1180insProProProPro
ENST00000375365.2:c.*51_*52insCCCCCCTCCTCC	ENSP00000364514.2:n.*51_*52insCCCCCCTCCTCC
ENST00000396435.7:c.3566_3567insCCCCCCTCCTCC	ENSP00000379712.3:p.Pro1189_Glu1190insProProProPro
NM_001111125.2:c.3566_3567insCCCCCCTCCTCC	NP_001104595.1:p.Pro1189_Glu1190insProProProPro
NM_015075.1:c.*51_*52insCCCCCCTCCTCC	NP_055890.1:n.*51_*52insCCCCCCTCCTCC
XM_006724579.2:c.3662_3663insCCCCCCTCCTCC	XP_006724642.1:p.Pro1221_Glu1222insProProProPro
XM_006724580.2:c.2951_2952insCCCCCCTCCTCC	XP_006724643.1:p.Pro984_Glu985insProProProPro
XM_006724581.2:c.3597+663_3597+664insCCCCCCTCCTCC	XP_006724644.1:n.3597+663_3597+664insCCCCCCTCCTCC
XM_006724582.2:c.3597+663_3597+664insCCCCCCTCCTCC	XP_006724645.1:n.3597+663_3597+664insCCCCCCTCCTCC
XM_006724583.2:c.3547+1202_3547+1203insCCCCCCTCCTCC	XP_006724646.1:n.3547+1202_3547+1203insCCCCCCTCCTCC
XM_006724584.2:c.*51_*52insCCCCCCTCCTCC	XP_006724647.1:n.*51_*52insCCCCCCTCCTCC
XM_011530772.1:c.2888_2889insCCCCCCTCCTCC	XP_011529074.1:p.Pro963_Glu964insProProProPro
XM_011530773.1:c.2855_2856insCCCCCCTCCTCC	XP_011529075.1:p.Pro952_Glu953insProProProPro
XM_011530775.1:c.3547+1202_3547+1203insCCCCCCTCCTCC	XP_011529077.1:n.3547+1202_3547+1203insCCCCCCTCCTCC
XM_006724579.3:c.3662_3663insCCCCCCTCCTCC	XP_006724642.1:p.Pro1221_Glu1222insProProProPro
XM_006724580.3:c.2951_2952insCCCCCCTCCTCC	XP_006724643.1:p.Pro984_Glu985insProProProPro
XM_006724581.4:c.3597+663_3597+664insCCCCCCTCCTCC	XP_006724644.1:n.3597+663_3597+664insCCCCCCTCCTCC
XM_006724582.4:c.3597+663_3597+664insCCCCCCTCCTCC	XP_006724645.1:n.3597+663_3597+664insCCCCCCTCCTCC
XM_006724583.4:c.3547+1202_3547+1203insCCCCCCTCCTCC	XP_006724646.1:n.3547+1202_3547+1203insCCCCCCTCCTCC
XM_006724584.3:c.*51_*52insCCCCCCTCCTCC	XP_006724647.1:n.*51_*52insCCCCCCTCCTCC
XM_011530773.2:c.2855_2856insCCCCCCTCCTCC	XP_011529075.1:p.Pro952_Glu953insProProProPro
XM_017029359.2:c.3536_3537insCCCCCCTCCTCC	XP_016884848.1:p.Pro1179_Glu1180insProProProPro
XM_017029360.1:c.3068_3069insCCCCCCTCCTCC	XP_016884849.1:p.Pro1023_Glu1024insProProProPro
NM_001111125.3:c.3566_3567insCCCCCCTCCTCC MANE Select	NP_001104595.1:p.Pro1189_Glu1190insProProProPro
NM_015075.2:c.*51_*52insCCCCCCTCCTCC	NP_055890.1:n.*51_*52insCCCCCCTCCTCC