Canonical Allele Identifier: CA916080340
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 856481
ClinVar RCV Id: RCV002553909
dbSNP Id: rs1764704274

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112835016del , CM000667.2:g.112835016del GRCh38
NC_000005.9:g.112170713del , CM000667.1:g.112170713del GRCh37
NC_000005.8:g.112198612del NCBI36
NG_008481.4:g.147496del , LRG_130:g.147496del

Transcript Alleles

HGVS Amino-acid Change
ENST00000502371.3:c.1474del ENSP00000484935.2:n.1474del
ENST00000504915.3:c.1863del ENSP00000473355.2:p.Ala622LeufsTer6
ENST00000505350.2:c.*1815del ENSP00000481752.1:n.*1815del
ENST00000507379.6:c.1755del ENSP00000423224.2:p.Ala586LeufsTer6
ENST00000509732.6:c.1809del ENSP00000426541.2:p.Ala604LeufsTer6
ENST00000512211.7:c.1809del ENSP00000423828.3:p.Ala604LeufsTer6
ENST00000257430.9:c.1809del MANE Select ENSP00000257430.4:p.Ala604LeufsTer6
ENST00000257430.8:c.1809del ENSP00000257430.4:p.Ala604LeufsTer6
ENST00000502371.2:c.162del
ENST00000504915.2:c.498del ENSP00000473355.1:p.Ala167LeufsTer6
ENST00000507379.5:c.1755del ENSP00000423224.1:p.Ala586LeufsTer6
ENST00000508376.6:c.1809del ENSP00000427089.2:p.Ala604LeufsTer6
ENST00000508624.5:c.*1131del ENSP00000424265.1:n.*1131del
ENST00000512211.6:c.1809del ENSP00000423828.2:p.Ala604LeufsTer6
ENST00000520401.1:c.230+6044del
NM_000038.5:c.1809del NP_000029.2:p.Ala604LeufsTer6
NM_001127510.2:c.1809del NP_001120982.1:p.Ala604LeufsTer6
NM_001127511.2:c.1755del NP_001120983.2:p.Ala586LeufsTer6
NM_001354895.1:c.1809del NP_001341824.1:p.Ala604LeufsTer6
NM_001354896.1:c.1863del NP_001341825.1:p.Ala622LeufsTer6
NM_001354897.1:c.1839del NP_001341826.1:p.Ala614LeufsTer6
NM_001354898.1:c.1734del NP_001341827.1:p.Ala579LeufsTer6
NM_001354899.1:c.1725del NP_001341828.1:p.Ala576LeufsTer6
NM_001354900.1:c.1686del NP_001341829.1:p.Ala563LeufsTer6
NM_001354901.1:c.1632del NP_001341830.1:p.Ala545LeufsTer6
NM_001354902.1:c.1536del NP_001341831.1:p.Ala513LeufsTer6
NM_001354903.1:c.1506del NP_001341832.1:p.Ala503LeufsTer6
NM_001354904.1:c.1431del NP_001341833.1:p.Ala478LeufsTer6
NM_001354905.1:c.1329del NP_001341834.1:p.Ala444LeufsTer6
NM_001354906.1:c.960del NP_001341835.1:p.Ala321LeufsTer6
NM_000038.6:c.1809del MANE Select NP_000029.2:p.Ala604LeufsTer6
NM_001127510.3:c.1809del NP_001120982.1:p.Ala604LeufsTer6
NM_001127511.3:c.1755del NP_001120983.2:p.Ala586LeufsTer6
NM_001354895.2:c.1809del NP_001341824.1:p.Ala604LeufsTer6
NM_001354896.2:c.1863del NP_001341825.1:p.Ala622LeufsTer6
NM_001354897.2:c.1839del NP_001341826.1:p.Ala614LeufsTer6
NM_001354898.2:c.1734del NP_001341827.1:p.Ala579LeufsTer6
NM_001354899.2:c.1725del NP_001341828.1:p.Ala576LeufsTer6
NM_001354900.2:c.1686del NP_001341829.1:p.Ala563LeufsTer6
NM_001354901.2:c.1632del NP_001341830.1:p.Ala545LeufsTer6
NM_001354902.2:c.1536del NP_001341831.1:p.Ala513LeufsTer6
NM_001354903.2:c.1506del NP_001341832.1:p.Ala503LeufsTer6
NM_001354904.2:c.1431del NP_001341833.1:p.Ala478LeufsTer6
NM_001354905.2:c.1329del NP_001341834.1:p.Ala444LeufsTer6
NM_001354906.2:c.960del NP_001341835.1:p.Ala321LeufsTer6