Canonical Allele Identifier: CA2582341323
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2583614
ClinVar RCV Id: RCV003334536

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112840188del , CM000667.2:g.112840188del GRCh38
NC_000005.9:g.112175885del , CM000667.1:g.112175885del GRCh37
NC_000005.8:g.112203784del NCBI36
NG_008481.4:g.152668del , LRG_130:g.152668del

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.4648del ENSP00000473355.2:p.Asp1550ThrfsTer?
ENST00000505350.2:c.*4600del ENSP00000481752.1:n.*4600del
ENST00000507379.6:c.4540del ENSP00000423224.2:p.Asp1514ThrfsTer?
ENST00000509732.6:c.4594del ENSP00000426541.2:p.Asp1532ThrfsTer?
ENST00000512211.7:c.4594del ENSP00000423828.3:p.Asp1532ThrfsTer?
ENST00000257430.9:c.4594del MANE Select ENSP00000257430.4:p.Asp1532ThrfsTer?
ENST00000257430.8:c.4594del ENSP00000257430.4:p.Asp1532ThrfsTer?
ENST00000508376.6:c.4594del ENSP00000427089.2:p.Asp1532ThrfsTer?
ENST00000508624.5:c.*3916del ENSP00000424265.1:n.*3916del
ENST00000520401.1:c.230+11216del
NM_000038.5:c.4594del NP_000029.2:p.Asp1532ThrfsTer?
NM_001127510.2:c.4594del NP_001120982.1:p.Asp1532ThrfsTer?
NM_001127511.2:c.4540del NP_001120983.2:p.Asp1514ThrfsTer?
NM_001354895.1:c.4594del NP_001341824.1:p.Asp1532ThrfsTer?
NM_001354896.1:c.4648del NP_001341825.1:p.Asp1550ThrfsTer?
NM_001354897.1:c.4624del NP_001341826.1:p.Asp1542ThrfsTer?
NM_001354898.1:c.4519del NP_001341827.1:p.Asp1507ThrfsTer?
NM_001354899.1:c.4510del NP_001341828.1:p.Asp1504ThrfsTer?
NM_001354900.1:c.4471del NP_001341829.1:p.Asp1491ThrfsTer?
NM_001354901.1:c.4417del NP_001341830.1:p.Asp1473ThrfsTer?
NM_001354902.1:c.4321del NP_001341831.1:p.Asp1441ThrfsTer?
NM_001354903.1:c.4291del NP_001341832.1:p.Asp1431ThrfsTer?
NM_001354904.1:c.4216del NP_001341833.1:p.Asp1406ThrfsTer?
NM_001354905.1:c.4114del NP_001341834.1:p.Asp1372ThrfsTer?
NM_001354906.1:c.3745del NP_001341835.1:p.Asp1249ThrfsTer?
NM_000038.6:c.4594del MANE Select NP_000029.2:p.Asp1532ThrfsTer?
NM_001127510.3:c.4594del NP_001120982.1:p.Asp1532ThrfsTer?
NM_001127511.3:c.4540del NP_001120983.2:p.Asp1514ThrfsTer?
NM_001354895.2:c.4594del NP_001341824.1:p.Asp1532ThrfsTer?
NM_001354896.2:c.4648del NP_001341825.1:p.Asp1550ThrfsTer?
NM_001354897.2:c.4624del NP_001341826.1:p.Asp1542ThrfsTer?
NM_001354898.2:c.4519del NP_001341827.1:p.Asp1507ThrfsTer?
NM_001354899.2:c.4510del NP_001341828.1:p.Asp1504ThrfsTer?
NM_001354900.2:c.4471del NP_001341829.1:p.Asp1491ThrfsTer?
NM_001354901.2:c.4417del NP_001341830.1:p.Asp1473ThrfsTer?
NM_001354902.2:c.4321del NP_001341831.1:p.Asp1441ThrfsTer?
NM_001354903.2:c.4291del NP_001341832.1:p.Asp1431ThrfsTer?
NM_001354904.2:c.4216del NP_001341833.1:p.Asp1406ThrfsTer?
NM_001354905.2:c.4114del NP_001341834.1:p.Asp1372ThrfsTer?
NM_001354906.2:c.3745del NP_001341835.1:p.Asp1249ThrfsTer?