Canonical Allele Identifier: CA2838031972

Gene: IQSEC2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53250726_53250727insAGTGGACAGCTGGC , CM000685.2:g.53250726_53250727insAGTGGACAGCTGGC	GRCh38
NC_000023.10:g.53279908_53279909insAGTGGACAGCTGGC , CM000685.1:g.53279908_53279909insAGTGGACAGCTGGC	GRCh37
NC_000023.9:g.53296633_53296634insAGTGGACAGCTGGC	NCBI36
NG_021296.1:g.75622_75623insTCCACTGCCAGCTG
NG_021296.2:g.75632_75633insTCCACTGCCAGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.2016_2017insTCCACTGCCAGCTG	ENSP00000516672.1:p.Val673SerfsTer18
ENST00000640694.1:c.1857_1858insTCCACTGCCAGCTG	ENSP00000492403.1:p.Val620SerfsTer18
ENST00000642864.1:c.1857_1858insTCCACTGCCAGCTG MANE Select	ENSP00000495726.1:p.Val620SerfsTer18
ENST00000674510.1:c.1857_1858insTCCACTGCCAGCTG	ENSP00000502054.1:p.Val620SerfsTer18
ENST00000675719.1:c.1827_1828insTCCACTGCCAGCTG	ENSP00000501927.1:p.Val610SerfsTer18
ENST00000375365.2:c.1242_1243insTCCACTGCCAGCTG	ENSP00000364514.2:p.Val415SerfsTer18
ENST00000396435.7:c.1857_1858insTCCACTGCCAGCTG	ENSP00000379712.3:p.Val620SerfsTer18
NM_001111125.2:c.1857_1858insTCCACTGCCAGCTG	NP_001104595.1:p.Val620SerfsTer18
NM_015075.1:c.1242_1243insTCCACTGCCAGCTG	NP_055890.1:p.Val415SerfsTer18
XM_006724579.2:c.1953_1954insTCCACTGCCAGCTG	XP_006724642.1:p.Val652SerfsTer18
XM_006724580.2:c.1242_1243insTCCACTGCCAGCTG	XP_006724643.1:p.Val415SerfsTer18
XM_006724581.2:c.1953_1954insTCCACTGCCAGCTG	XP_006724644.1:p.Val652SerfsTer18
XM_006724582.2:c.1953_1954insTCCACTGCCAGCTG	XP_006724645.1:p.Val652SerfsTer18
XM_006724583.2:c.1953_1954insTCCACTGCCAGCTG	XP_006724646.1:p.Val652SerfsTer18
XM_006724584.2:c.1953_1954insTCCACTGCCAGCTG	XP_006724647.1:p.Val652SerfsTer18
XM_011530772.1:c.1179_1180insTCCACTGCCAGCTG	XP_011529074.1:p.Val394SerfsTer18
XM_011530773.1:c.1146_1147insTCCACTGCCAGCTG	XP_011529075.1:p.Val383SerfsTer18
XM_011530774.1:c.1953_1954insTCCACTGCCAGCTG	XP_011529076.1:p.Val652SerfsTer18
XM_011530775.1:c.1953_1954insTCCACTGCCAGCTG	XP_011529077.1:p.Val652SerfsTer18
XM_011530776.1:c.1953_1954insTCCACTGCCAGCTG	XP_011529078.1:p.Val652SerfsTer18
XM_011530777.1:c.1953_1954insTCCACTGCCAGCTG	XP_011529079.1:p.Val652SerfsTer18
XR_938365.1:n.2180_2181insTCCACTGCCAGCTG
XM_006724579.3:c.1953_1954insTCCACTGCCAGCTG	XP_006724642.1:p.Val652SerfsTer18
XM_006724580.3:c.1242_1243insTCCACTGCCAGCTG	XP_006724643.1:p.Val415SerfsTer18
XM_006724581.4:c.1953_1954insTCCACTGCCAGCTG	XP_006724644.1:p.Val652SerfsTer18
XM_006724582.4:c.1953_1954insTCCACTGCCAGCTG	XP_006724645.1:p.Val652SerfsTer18
XM_006724583.4:c.1953_1954insTCCACTGCCAGCTG	XP_006724646.1:p.Val652SerfsTer18
XM_006724584.3:c.1953_1954insTCCACTGCCAGCTG	XP_006724647.1:p.Val652SerfsTer18
XM_011530773.2:c.1146_1147insTCCACTGCCAGCTG	XP_011529075.1:p.Val383SerfsTer18
XM_011530774.3:c.1953_1954insTCCACTGCCAGCTG	XP_011529076.1:p.Val652SerfsTer18
XM_011530776.2:c.1953_1954insTCCACTGCCAGCTG	XP_011529078.1:p.Val652SerfsTer18
XM_011530777.2:c.1953_1954insTCCACTGCCAGCTG	XP_011529079.1:p.Val652SerfsTer18
XM_017029359.2:c.1827_1828insTCCACTGCCAGCTG	XP_016884848.1:p.Val610SerfsTer18
XM_017029360.1:c.1359_1360insTCCACTGCCAGCTG	XP_016884849.1:p.Val454SerfsTer18
XR_938365.2:n.2174_2175insTCCACTGCCAGCTG
NM_001111125.3:c.1857_1858insTCCACTGCCAGCTG MANE Select	NP_001104595.1:p.Val620SerfsTer18
NM_015075.2:c.1242_1243insTCCACTGCCAGCTG	NP_055890.1:p.Val415SerfsTer18