Canonical Allele Identifier: CA2695199271
Community Standard Title: NM_001023570.4(IQCB1):c.781del (p.Leu261Ter)
Gene: IQCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.121797213del , CM000665.2:g.121797213del GRCh38
NC_000003.11:g.121516060del , CM000665.1:g.121516060del GRCh37
NC_000003.10:g.122998750del NCBI36
NG_015887.1:g.42867del

Transcript Alleles

HGVS Amino-acid Change
NM_001023570.4:c.781del MANE Select NP_001018864.2:p.Leu261Ter
ENST00000310864.11:c.781del MANE Select ENSP00000311505.6:p.Leu261Ter
NM_001023570.2:c.781del NP_001018864.2:p.Leu261Ter
NM_001023570.3:c.781del NP_001018864.2:p.Leu261Ter
NM_001023571.2:c.588-6998del NP_001018865.2:n.588-6998del
NM_001023571.3:c.588-6998del NP_001018865.2:n.588-6998del
NM_001023571.4:c.588-6998del NP_001018865.2:n.588-6998del
NM_001319107.1:c.781del NP_001306036.1:p.Leu261Ter
NM_001319107.2:c.781del NP_001306036.1:p.Leu261Ter
NR_134968.1:n.995del
NR_134968.2:n.976del
ENST00000310864.10:c.781del ENSP00000311505.6:p.Leu261Ter
ENST00000349820.10:c.588-6998del ENSP00000323756.7:n.588-6998del
ENST00000393650.7:c.781del ENSP00000377261.3:p.Leu261Ter
ENST00000460108.5:c.229del ENSP00000419168.1:p.Leu77Ter
ENST00000498104.1:c.229del ENSP00000417832.1:p.Leu77Ter
XM_005247911.2:c.781del XP_005247968.1:p.Leu261Ter
XM_005247911.4:c.781del XP_005247968.1:p.Leu261Ter
XM_005247912.1:c.229del XP_005247969.1:p.Leu77Ter
XM_005247912.3:c.229del XP_005247969.1:p.Leu77Ter
XM_005247913.1:c.781del XP_005247970.1:p.Leu261Ter
XM_011513335.1:c.229del XP_011511637.1:p.Leu77Ter
XM_011513335.3:c.229del XP_011511637.1:p.Leu77Ter
XM_017007537.2:c.229del XP_016863026.1:p.Leu77Ter
XM_017007539.2:c.588-6998del XP_016863028.1:n.588-6998del
XM_024453833.1:c.229del XP_024309601.1:p.Leu77Ter
XM_024453834.1:c.229del XP_024309602.1:p.Leu77Ter
XR_001740376.2:n.909del
XR_001740377.2:n.909del
XR_001740378.2:n.909del
XR_001740379.2:n.909del
XR_001740380.2:n.909del
XR_001740381.2:n.909del
XR_924221.1:n.908del