Canonical Allele Identifier: CA201130
Gene: IQCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.121772607_121772608del , CM000665.2:g.121772607_121772608del GRCh38
NC_000003.11:g.121491454_121491455del , CM000665.1:g.121491454_121491455del GRCh37
NC_000003.10:g.122974144_122974145del NCBI36
NG_015887.1:g.67474_67475del

Transcript Alleles

HGVS Amino-acid Change
ENST00000310864.11:c.1518_1519del MANE Select ENSP00000311505.6:p.His506GlnfsTer13
ENST00000310864.10:c.1518_1519del ENSP00000311505.6:p.His506GlnfsTer13
ENST00000349820.10:c.1119_1120del ENSP00000323756.7:p.His373GlnfsTer13
ENST00000393650.7:c.*496_*497del ENSP00000377261.3:n.*496_*497del
NM_001023570.2:c.1518_1519del NP_001018864.2:p.His506GlnfsTer13
NM_001023571.2:c.1119_1120del NP_001018865.2:p.His373GlnfsTer13
XM_005247911.2:c.1411-2032_1411-2031del XP_005247968.1:n.1411-2032_1411-2031del
XM_005247912.1:c.966_967del XP_005247969.1:p.His322GlnfsTer13
XM_011513335.1:c.966_967del XP_011511637.1:p.His322GlnfsTer13
XR_924221.1:n.1535_1536del
NM_001023570.3:c.1518_1519del NP_001018864.2:p.His506GlnfsTer13
NM_001023571.3:c.1119_1120del NP_001018865.2:p.His373GlnfsTer13
NM_001319107.1:c.1518_1519del NP_001306036.1:p.His506GlnfsTer13
NR_134968.1:n.1622_1623del
XM_005247911.4:c.1411-2032_1411-2031del XP_005247968.1:n.1411-2032_1411-2031del
XM_005247912.3:c.966_967del XP_005247969.1:p.His322GlnfsTer13
XM_011513335.3:c.966_967del XP_011511637.1:p.His322GlnfsTer13
XM_017007537.2:c.966_967del XP_016863026.1:p.His322GlnfsTer13
XM_017007539.2:c.1012-2032_1012-2031del XP_016863028.1:n.1012-2032_1012-2031del
XM_024453833.1:c.966_967del XP_024309601.1:p.His322GlnfsTer13
XM_024453834.1:c.966_967del XP_024309602.1:p.His322GlnfsTer13
XR_001740376.2:n.1497_1498del
XR_001740377.2:n.1390-2032_1390-2031del
XR_001740378.2:n.1536_1537del
XR_001740379.2:n.1387_1388del
XR_001740380.2:n.1429-2032_1429-2031del
XR_001740381.2:n.1280-2032_1280-2031del
NM_001023570.4:c.1518_1519del MANE Select NP_001018864.2:p.His506GlnfsTer13
NM_001023571.4:c.1119_1120del NP_001018865.2:p.His373GlnfsTer13
NM_001319107.2:c.1518_1519del NP_001306036.1:p.His506GlnfsTer13
NR_134968.2:n.1603_1604del