Canonical Allele Identifier: CA2697546418
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2710934
ClinVar RCV Id: RCV003537543

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112840299_112840300del , CM000667.2:g.112840299_112840300del GRCh38
NC_000005.9:g.112175996_112175997del , CM000667.1:g.112175996_112175997del GRCh37
NC_000005.8:g.112203895_112203896del NCBI36
NG_008481.4:g.152779_152780del , LRG_130:g.152779_152780del

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.4759_4760del ENSP00000473355.2:p.Asp1587Ter
ENST00000505350.2:c.*4711_*4712del ENSP00000481752.1:n.*4711_*4712del
ENST00000507379.6:c.4651_4652del ENSP00000423224.2:p.Asp1551Ter
ENST00000509732.6:c.4705_4706del ENSP00000426541.2:p.Asp1569Ter
ENST00000512211.7:c.4705_4706del ENSP00000423828.3:p.Asp1569Ter
ENST00000257430.9:c.4705_4706del MANE Select ENSP00000257430.4:p.Asp1569Ter
ENST00000257430.8:c.4705_4706del ENSP00000257430.4:p.Asp1569Ter
ENST00000508376.6:c.4705_4706del ENSP00000427089.2:p.Asp1569Ter
ENST00000508624.5:c.*4027_*4028del ENSP00000424265.1:n.*4027_*4028del
ENST00000520401.1:c.230+11327_230+11328del
NM_000038.5:c.4705_4706del NP_000029.2:p.Asp1569Ter
NM_001127510.2:c.4705_4706del NP_001120982.1:p.Asp1569Ter
NM_001127511.2:c.4651_4652del NP_001120983.2:p.Asp1551Ter
NM_001354895.1:c.4705_4706del NP_001341824.1:p.Asp1569Ter
NM_001354896.1:c.4759_4760del NP_001341825.1:p.Asp1587Ter
NM_001354897.1:c.4735_4736del NP_001341826.1:p.Asp1579Ter
NM_001354898.1:c.4630_4631del NP_001341827.1:p.Asp1544Ter
NM_001354899.1:c.4621_4622del NP_001341828.1:p.Asp1541Ter
NM_001354900.1:c.4582_4583del NP_001341829.1:p.Asp1528Ter
NM_001354901.1:c.4528_4529del NP_001341830.1:p.Asp1510Ter
NM_001354902.1:c.4432_4433del NP_001341831.1:p.Asp1478Ter
NM_001354903.1:c.4402_4403del NP_001341832.1:p.Asp1468Ter
NM_001354904.1:c.4327_4328del NP_001341833.1:p.Asp1443Ter
NM_001354905.1:c.4225_4226del NP_001341834.1:p.Asp1409Ter
NM_001354906.1:c.3856_3857del NP_001341835.1:p.Asp1286Ter
NM_000038.6:c.4705_4706del MANE Select NP_000029.2:p.Asp1569Ter
NM_001127510.3:c.4705_4706del NP_001120982.1:p.Asp1569Ter
NM_001127511.3:c.4651_4652del NP_001120983.2:p.Asp1551Ter
NM_001354895.2:c.4705_4706del NP_001341824.1:p.Asp1569Ter
NM_001354896.2:c.4759_4760del NP_001341825.1:p.Asp1587Ter
NM_001354897.2:c.4735_4736del NP_001341826.1:p.Asp1579Ter
NM_001354898.2:c.4630_4631del NP_001341827.1:p.Asp1544Ter
NM_001354899.2:c.4621_4622del NP_001341828.1:p.Asp1541Ter
NM_001354900.2:c.4582_4583del NP_001341829.1:p.Asp1528Ter
NM_001354901.2:c.4528_4529del NP_001341830.1:p.Asp1510Ter
NM_001354902.2:c.4432_4433del NP_001341831.1:p.Asp1478Ter
NM_001354903.2:c.4402_4403del NP_001341832.1:p.Asp1468Ter
NM_001354904.2:c.4327_4328del NP_001341833.1:p.Asp1443Ter
NM_001354905.2:c.4225_4226del NP_001341834.1:p.Asp1409Ter
NM_001354906.2:c.3856_3857del NP_001341835.1:p.Asp1286Ter