Canonical Allele Identifier: CA641903978

Gene: IQSEC2

Linked Data

• dbSNP Id: rs1556859330
• gnomAD v2: X-53264311-GGT-G
• gnomAD v3: X-53235129-GGT-G
• gnomAD v4: X-53235129-GGT-G
• MyVariant Identifiers: chrX:g.53264312_53264313del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53235131_53235132del , CM000685.2:g.53235131_53235132del	GRCh38
NC_000023.10:g.53264313_53264314del , CM000685.1:g.53264313_53264314del	GRCh37
NC_000023.9:g.53281038_53281039del	NCBI36
NG_021296.1:g.91210_91211del
NG_021296.2:g.91220_91221del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3714_3715del	ENSP00000516672.1:p.Pro1240AlafsTer?
ENST00000638521.1:c.1453+652_1453+653del
ENST00000638869.1:c.962+652_962+653del
ENST00000639796.1:c.316+1191_316+1192del	ENSP00000492252.1:n.316+1191_316+1192del
ENST00000640005.1:c.514+1191_514+1192del	ENSP00000491293.1:n.514+1191_514+1192del
ENST00000640436.1:n.535_536del
ENST00000640694.1:c.*40_*41del	ENSP00000492403.1:n.*40_*41del
ENST00000642864.1:c.3555_3556del MANE Select	ENSP00000495726.1:p.Pro1187AlafsTer?
ENST00000674510.1:c.3555_3556del	ENSP00000502054.1:p.Pro1187AlafsTer?
ENST00000675719.1:c.3525_3526del	ENSP00000501927.1:p.Pro1177AlafsTer?
ENST00000375365.2:c.*40_*41del	ENSP00000364514.2:n.*40_*41del
ENST00000396435.7:c.3555_3556del	ENSP00000379712.3:p.Pro1187AlafsTer?
NM_001111125.2:c.3555_3556del	NP_001104595.1:p.Pro1187AlafsTer?
NM_015075.1:c.*40_*41del	NP_055890.1:n.*40_*41del
XM_006724579.2:c.3651_3652del	XP_006724642.1:p.Pro1219AlafsTer?
XM_006724580.2:c.2940_2941del	XP_006724643.1:p.Pro982AlafsTer?
XM_006724581.2:c.3597+652_3597+653del	XP_006724644.1:n.3597+652_3597+653del
XM_006724582.2:c.3597+652_3597+653del	XP_006724645.1:n.3597+652_3597+653del
XM_006724583.2:c.3547+1191_3547+1192del	XP_006724646.1:n.3547+1191_3547+1192del
XM_006724584.2:c.*40_*41del	XP_006724647.1:n.*40_*41del
XM_011530772.1:c.2877_2878del	XP_011529074.1:p.Pro961AlafsTer?
XM_011530773.1:c.2844_2845del	XP_011529075.1:p.Pro950AlafsTer?
XM_011530775.1:c.3547+1191_3547+1192del	XP_011529077.1:n.3547+1191_3547+1192del
XM_006724579.3:c.3651_3652del	XP_006724642.1:p.Pro1219AlafsTer?
XM_006724580.3:c.2940_2941del	XP_006724643.1:p.Pro982AlafsTer?
XM_006724581.4:c.3597+652_3597+653del	XP_006724644.1:n.3597+652_3597+653del
XM_006724582.4:c.3597+652_3597+653del	XP_006724645.1:n.3597+652_3597+653del
XM_006724583.4:c.3547+1191_3547+1192del	XP_006724646.1:n.3547+1191_3547+1192del
XM_006724584.3:c.*40_*41del	XP_006724647.1:n.*40_*41del
XM_011530773.2:c.2844_2845del	XP_011529075.1:p.Pro950AlafsTer?
XM_017029359.2:c.3525_3526del	XP_016884848.1:p.Pro1177AlafsTer?
XM_017029360.1:c.3057_3058del	XP_016884849.1:p.Pro1021AlafsTer?
NM_001111125.3:c.3555_3556del MANE Select	NP_001104595.1:p.Pro1187AlafsTer?
NM_015075.2:c.*40_*41del	NP_055890.1:n.*40_*41del