Canonical Allele Identifier: CA2579614738

Gene: IQSEC2

Linked Data

• gnomAD v4: X-53235122-CGGCGGGGGTGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53235128_53235139del , CM000685.2:g.53235128_53235139del	GRCh38
NC_000023.10:g.53264310_53264321del , CM000685.1:g.53264310_53264321del	GRCh37
NC_000023.9:g.53281035_53281046del	NCBI36
NG_021296.1:g.91207_91218del
NG_021296.2:g.91217_91228del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3711_3722del	ENSP00000516672.1:p.Pro1238_Pro1241del
ENST00000638521.1:c.1453+649_1453+660del
ENST00000638869.1:c.962+649_962+660del
ENST00000639796.1:c.316+1188_316+1199del	ENSP00000492252.1:n.316+1188_316+1199del
ENST00000640005.1:c.514+1188_514+1199del	ENSP00000491293.1:n.514+1188_514+1199del
ENST00000640436.1:n.532_543del
ENST00000640694.1:c.*37_*48del	ENSP00000492403.1:n.*37_*48del
ENST00000642864.1:c.3552_3563del MANE Select	ENSP00000495726.1:p.Pro1185_Pro1188del
ENST00000674510.1:c.3552_3563del	ENSP00000502054.1:p.Pro1185_Pro1188del
ENST00000675719.1:c.3522_3533del	ENSP00000501927.1:p.Pro1175_Pro1178del
ENST00000375365.2:c.*37_*48del	ENSP00000364514.2:n.*37_*48del
ENST00000396435.7:c.3552_3563del	ENSP00000379712.3:p.Pro1185_Pro1188del
NM_001111125.2:c.3552_3563del	NP_001104595.1:p.Pro1185_Pro1188del
NM_015075.1:c.*37_*48del	NP_055890.1:n.*37_*48del
XM_006724579.2:c.3648_3659del	XP_006724642.1:p.Pro1217_Pro1220del
XM_006724580.2:c.2937_2948del	XP_006724643.1:p.Pro980_Pro983del
XM_006724581.2:c.3597+649_3597+660del	XP_006724644.1:n.3597+649_3597+660del
XM_006724582.2:c.3597+649_3597+660del	XP_006724645.1:n.3597+649_3597+660del
XM_006724583.2:c.3547+1188_3547+1199del	XP_006724646.1:n.3547+1188_3547+1199del
XM_006724584.2:c.*37_*48del	XP_006724647.1:n.*37_*48del
XM_011530772.1:c.2874_2885del	XP_011529074.1:p.Pro959_Pro962del
XM_011530773.1:c.2841_2852del	XP_011529075.1:p.Pro948_Pro951del
XM_011530775.1:c.3547+1188_3547+1199del	XP_011529077.1:n.3547+1188_3547+1199del
XM_006724579.3:c.3648_3659del	XP_006724642.1:p.Pro1217_Pro1220del
XM_006724580.3:c.2937_2948del	XP_006724643.1:p.Pro980_Pro983del
XM_006724581.4:c.3597+649_3597+660del	XP_006724644.1:n.3597+649_3597+660del
XM_006724582.4:c.3597+649_3597+660del	XP_006724645.1:n.3597+649_3597+660del
XM_006724583.4:c.3547+1188_3547+1199del	XP_006724646.1:n.3547+1188_3547+1199del
XM_006724584.3:c.*37_*48del	XP_006724647.1:n.*37_*48del
XM_011530773.2:c.2841_2852del	XP_011529075.1:p.Pro948_Pro951del
XM_017029359.2:c.3522_3533del	XP_016884848.1:p.Pro1175_Pro1178del
XM_017029360.1:c.3054_3065del	XP_016884849.1:p.Pro1019_Pro1022del
NM_001111125.3:c.3552_3563del MANE Select	NP_001104595.1:p.Pro1185_Pro1188del
NM_015075.2:c.*37_*48del	NP_055890.1:n.*37_*48del