Canonical Allele Identifier: CA16617808
Gene: IQCB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419171
ClinVar RCV Id: RCV000479224
dbSNP Id: rs1064793692

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.121772611del , CM000665.2:g.121772611del GRCh38
NC_000003.11:g.121491458del , CM000665.1:g.121491458del GRCh37
NC_000003.10:g.122974148del NCBI36
NG_015887.1:g.67469del

Transcript Alleles

HGVS Amino-acid change
ENST00000310864.11:c.1513del MANE Select ENSP00000311505.6:p.Gln505SerfsTer6
ENST00000310864.10:c.1513del ENSP00000311505.6:p.Gln505SerfsTer6
ENST00000349820.10:c.1114del ENSP00000323756.7:p.Gln372SerfsTer6
ENST00000393650.7:c.*491del ENSP00000377261.3:n.*491del
NM_001023570.2:c.1513del NP_001018864.2:p.Gln505SerfsTer6
NM_001023571.2:c.1114del NP_001018865.2:p.Gln372SerfsTer6
XM_005247911.2:c.1411-2037del XP_005247968.1:n.1411-2037del
XM_005247912.1:c.961del XP_005247969.1:p.Gln321SerfsTer6
XM_011513335.1:c.961del XP_011511637.1:p.Gln321SerfsTer6
XR_924221.1:n.1530del
NM_001023570.3:c.1513del NP_001018864.2:p.Gln505SerfsTer6
NM_001023571.3:c.1114del NP_001018865.2:p.Gln372SerfsTer6
NM_001319107.1:c.1513del NP_001306036.1:p.Gln505SerfsTer6
NR_134968.1:n.1617del
XM_005247911.4:c.1411-2037del XP_005247968.1:n.1411-2037del
XM_005247912.3:c.961del XP_005247969.1:p.Gln321SerfsTer6
XM_011513335.3:c.961del XP_011511637.1:p.Gln321SerfsTer6
XM_017007537.2:c.961del XP_016863026.1:p.Gln321SerfsTer6
XM_017007539.2:c.1012-2037del XP_016863028.1:n.1012-2037del
XM_024453833.1:c.961del XP_024309601.1:p.Gln321SerfsTer6
XM_024453834.1:c.961del XP_024309602.1:p.Gln321SerfsTer6
XR_001740376.2:n.1492del
XR_001740377.2:n.1390-2037del
XR_001740378.2:n.1531del
XR_001740379.2:n.1382del
XR_001740380.2:n.1429-2037del
XR_001740381.2:n.1280-2037del
NM_001023570.4:c.1513del MANE Select NP_001018864.2:p.Gln505SerfsTer6
NM_001023571.4:c.1114del NP_001018865.2:p.Gln372SerfsTer6
NM_001319107.2:c.1513del NP_001306036.1:p.Gln505SerfsTer6
NR_134968.2:n.1598del