Canonical Allele Identifier: CA645543977
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2583277
ClinVar RCV Id: RCV003336948

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112840303del , CM000667.2:g.112840303del GRCh38
NC_000005.9:g.112176000del , CM000667.1:g.112176000del GRCh37
NC_000005.8:g.112203899del NCBI36
NG_008481.4:g.152783del , LRG_130:g.152783del

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.4763del ENSP00000473355.2:p.Asp1588ValfsTer6
ENST00000505350.2:c.*4715del ENSP00000481752.1:n.*4715del
ENST00000507379.6:c.4655del ENSP00000423224.2:p.Asp1552ValfsTer6
ENST00000509732.6:c.4709del ENSP00000426541.2:p.Asp1570ValfsTer6
ENST00000512211.7:c.4709del ENSP00000423828.3:p.Asp1570ValfsTer6
ENST00000257430.9:c.4709del MANE Select ENSP00000257430.4:p.Asp1570ValfsTer6
ENST00000257430.8:c.4709del ENSP00000257430.4:p.Asp1570ValfsTer6
ENST00000508376.6:c.4709del ENSP00000427089.2:p.Asp1570ValfsTer6
ENST00000508624.5:c.*4031del ENSP00000424265.1:n.*4031del
ENST00000520401.1:c.230+11331del
NM_000038.5:c.4709del NP_000029.2:p.Asp1570ValfsTer6
NM_001127510.2:c.4709del NP_001120982.1:p.Asp1570ValfsTer6
NM_001127511.2:c.4655del NP_001120983.2:p.Asp1552ValfsTer6
NM_001354895.1:c.4709del NP_001341824.1:p.Asp1570ValfsTer6
NM_001354896.1:c.4763del NP_001341825.1:p.Asp1588ValfsTer6
NM_001354897.1:c.4739del NP_001341826.1:p.Asp1580ValfsTer6
NM_001354898.1:c.4634del NP_001341827.1:p.Asp1545ValfsTer6
NM_001354899.1:c.4625del NP_001341828.1:p.Asp1542ValfsTer6
NM_001354900.1:c.4586del NP_001341829.1:p.Asp1529ValfsTer6
NM_001354901.1:c.4532del NP_001341830.1:p.Asp1511ValfsTer6
NM_001354902.1:c.4436del NP_001341831.1:p.Asp1479ValfsTer6
NM_001354903.1:c.4406del NP_001341832.1:p.Asp1469ValfsTer6
NM_001354904.1:c.4331del NP_001341833.1:p.Asp1444ValfsTer6
NM_001354905.1:c.4229del NP_001341834.1:p.Asp1410ValfsTer6
NM_001354906.1:c.3860del NP_001341835.1:p.Asp1287ValfsTer6
NM_000038.6:c.4709del MANE Select NP_000029.2:p.Asp1570ValfsTer6
NM_001127510.3:c.4709del NP_001120982.1:p.Asp1570ValfsTer6
NM_001127511.3:c.4655del NP_001120983.2:p.Asp1552ValfsTer6
NM_001354895.2:c.4709del NP_001341824.1:p.Asp1570ValfsTer6
NM_001354896.2:c.4763del NP_001341825.1:p.Asp1588ValfsTer6
NM_001354897.2:c.4739del NP_001341826.1:p.Asp1580ValfsTer6
NM_001354898.2:c.4634del NP_001341827.1:p.Asp1545ValfsTer6
NM_001354899.2:c.4625del NP_001341828.1:p.Asp1542ValfsTer6
NM_001354900.2:c.4586del NP_001341829.1:p.Asp1529ValfsTer6
NM_001354901.2:c.4532del NP_001341830.1:p.Asp1511ValfsTer6
NM_001354902.2:c.4436del NP_001341831.1:p.Asp1479ValfsTer6
NM_001354903.2:c.4406del NP_001341832.1:p.Asp1469ValfsTer6
NM_001354904.2:c.4331del NP_001341833.1:p.Asp1444ValfsTer6
NM_001354905.2:c.4229del NP_001341834.1:p.Asp1410ValfsTer6
NM_001354906.2:c.3860del NP_001341835.1:p.Asp1287ValfsTer6