Canonical Allele Identifier: CA2693794532

Gene: IQSEC2

Linked Data

• gnomAD v4: X-53235125-C-CGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53235127_53235130dup , CM000685.2:g.53235127_53235130dup	GRCh38
NC_000023.10:g.53264309_53264312dup , CM000685.1:g.53264309_53264312dup	GRCh37
NC_000023.9:g.53281034_53281037dup	NCBI36
NG_021296.1:g.91212_91215dup
NG_021296.2:g.91222_91225dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3716_3719dup	ENSP00000516672.1:p.Pro1242AlafsTer?
ENST00000638521.1:c.1453+654_1453+657dup
ENST00000638869.1:c.962+654_962+657dup
ENST00000639796.1:c.316+1193_316+1196dup	ENSP00000492252.1:n.316+1193_316+1196dup
ENST00000640005.1:c.514+1193_514+1196dup	ENSP00000491293.1:n.514+1193_514+1196dup
ENST00000640436.1:n.537_540dup
ENST00000640694.1:c.*42_*45dup	ENSP00000492403.1:n.*42_*45dup
ENST00000642864.1:c.3557_3560dup MANE Select	ENSP00000495726.1:p.Pro1189AlafsTer?
ENST00000674510.1:c.3557_3560dup	ENSP00000502054.1:p.Pro1189AlafsTer?
ENST00000675719.1:c.3527_3530dup	ENSP00000501927.1:p.Pro1179AlafsTer?
ENST00000375365.2:c.*42_*45dup	ENSP00000364514.2:n.*42_*45dup
ENST00000396435.7:c.3557_3560dup	ENSP00000379712.3:p.Pro1189AlafsTer?
NM_001111125.2:c.3557_3560dup	NP_001104595.1:p.Pro1189AlafsTer?
NM_015075.1:c.*42_*45dup	NP_055890.1:n.*42_*45dup
XM_006724579.2:c.3653_3656dup	XP_006724642.1:p.Pro1221AlafsTer?
XM_006724580.2:c.2942_2945dup	XP_006724643.1:p.Pro984AlafsTer?
XM_006724581.2:c.3597+654_3597+657dup	XP_006724644.1:n.3597+654_3597+657dup
XM_006724582.2:c.3597+654_3597+657dup	XP_006724645.1:n.3597+654_3597+657dup
XM_006724583.2:c.3547+1193_3547+1196dup	XP_006724646.1:n.3547+1193_3547+1196dup
XM_006724584.2:c.*42_*45dup	XP_006724647.1:n.*42_*45dup
XM_011530772.1:c.2879_2882dup	XP_011529074.1:p.Pro963AlafsTer?
XM_011530773.1:c.2846_2849dup	XP_011529075.1:p.Pro952AlafsTer?
XM_011530775.1:c.3547+1193_3547+1196dup	XP_011529077.1:n.3547+1193_3547+1196dup
XM_006724579.3:c.3653_3656dup	XP_006724642.1:p.Pro1221AlafsTer?
XM_006724580.3:c.2942_2945dup	XP_006724643.1:p.Pro984AlafsTer?
XM_006724581.4:c.3597+654_3597+657dup	XP_006724644.1:n.3597+654_3597+657dup
XM_006724582.4:c.3597+654_3597+657dup	XP_006724645.1:n.3597+654_3597+657dup
XM_006724583.4:c.3547+1193_3547+1196dup	XP_006724646.1:n.3547+1193_3547+1196dup
XM_006724584.3:c.*42_*45dup	XP_006724647.1:n.*42_*45dup
XM_011530773.2:c.2846_2849dup	XP_011529075.1:p.Pro952AlafsTer?
XM_017029359.2:c.3527_3530dup	XP_016884848.1:p.Pro1179AlafsTer?
XM_017029360.1:c.3059_3062dup	XP_016884849.1:p.Pro1023AlafsTer?
NM_001111125.3:c.3557_3560dup MANE Select	NP_001104595.1:p.Pro1189AlafsTer?
NM_015075.2:c.*42_*45dup	NP_055890.1:n.*42_*45dup