Canonical Allele Identifier: CA16618079
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 422348
ClinVar RCV Id: RCV000485305
dbSNP Id: rs1064795724

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112838558_112838559delinsT , CM000667.2:g.112838558_112838559delinsT GRCh38
NC_000005.9:g.112174255_112174256delinsT , CM000667.1:g.112174255_112174256delinsT GRCh37
NC_000005.8:g.112202154_112202155delinsT NCBI36
NG_008481.4:g.151038_151039delinsT , LRG_130:g.151038_151039delinsT

Transcript Alleles

HGVS Amino-acid change
ENST00000502371.3:c.2629_2630delinsT ENSP00000484935.2:n.2629_2630delinsT
ENST00000504915.3:c.3018_3019delinsT ENSP00000473355.2:p.Glu1006AspfsTer17
ENST00000505350.2:c.*2970_*2971delinsT ENSP00000481752.1:n.*2970_*2971delinsT
ENST00000507379.6:c.2910_2911delinsT ENSP00000423224.2:p.Glu970AspfsTer17
ENST00000509732.6:c.2964_2965delinsT ENSP00000426541.2:p.Glu988AspfsTer17
ENST00000512211.7:c.2964_2965delinsT ENSP00000423828.3:p.Glu988AspfsTer17
ENST00000257430.9:c.2964_2965delinsT MANE Select ENSP00000257430.4:p.Glu988AspfsTer17
ENST00000257430.8:c.2964_2965delinsT ENSP00000257430.4:p.Glu988AspfsTer17
ENST00000502371.2:c.1317_1318delinsT
ENST00000507379.5:c.2910_2911delinsT ENSP00000423224.1:p.Glu970AspfsTer17
ENST00000508376.6:c.2964_2965delinsT ENSP00000427089.2:p.Glu988AspfsTer17
ENST00000508624.5:c.*2286_*2287delinsT ENSP00000424265.1:n.*2286_*2287delinsT
ENST00000512211.6:c.2964_2965delinsT ENSP00000423828.2:p.Glu988AspfsTer17
ENST00000520401.1:c.230+9586_230+9587delinsT
NM_000038.5:c.2964_2965delinsT NP_000029.2:p.Glu988AspfsTer17
NM_001127510.2:c.2964_2965delinsT NP_001120982.1:p.Glu988AspfsTer17
NM_001127511.2:c.2910_2911delinsT NP_001120983.2:p.Glu970AspfsTer17
NM_001354895.1:c.2964_2965delinsT NP_001341824.1:p.Glu988AspfsTer17
NM_001354896.1:c.3018_3019delinsT NP_001341825.1:p.Glu1006AspfsTer17
NM_001354897.1:c.2994_2995delinsT NP_001341826.1:p.Glu998AspfsTer17
NM_001354898.1:c.2889_2890delinsT NP_001341827.1:p.Glu963AspfsTer17
NM_001354899.1:c.2880_2881delinsT NP_001341828.1:p.Glu960AspfsTer17
NM_001354900.1:c.2841_2842delinsT NP_001341829.1:p.Glu947AspfsTer17
NM_001354901.1:c.2787_2788delinsT NP_001341830.1:p.Glu929AspfsTer17
NM_001354902.1:c.2691_2692delinsT NP_001341831.1:p.Glu897AspfsTer17
NM_001354903.1:c.2661_2662delinsT NP_001341832.1:p.Glu887AspfsTer17
NM_001354904.1:c.2586_2587delinsT NP_001341833.1:p.Glu862AspfsTer17
NM_001354905.1:c.2484_2485delinsT NP_001341834.1:p.Glu828AspfsTer17
NM_001354906.1:c.2115_2116delinsT NP_001341835.1:p.Glu705AspfsTer17
NM_000038.6:c.2964_2965delinsT MANE Select NP_000029.2:p.Glu988AspfsTer17
NM_001127510.3:c.2964_2965delinsT NP_001120982.1:p.Glu988AspfsTer17
NM_001127511.3:c.2910_2911delinsT NP_001120983.2:p.Glu970AspfsTer17
NM_001354895.2:c.2964_2965delinsT NP_001341824.1:p.Glu988AspfsTer17
NM_001354896.2:c.3018_3019delinsT NP_001341825.1:p.Glu1006AspfsTer17
NM_001354897.2:c.2994_2995delinsT NP_001341826.1:p.Glu998AspfsTer17
NM_001354898.2:c.2889_2890delinsT NP_001341827.1:p.Glu963AspfsTer17
NM_001354899.2:c.2880_2881delinsT NP_001341828.1:p.Glu960AspfsTer17
NM_001354900.2:c.2841_2842delinsT NP_001341829.1:p.Glu947AspfsTer17
NM_001354901.2:c.2787_2788delinsT NP_001341830.1:p.Glu929AspfsTer17
NM_001354902.2:c.2691_2692delinsT NP_001341831.1:p.Glu897AspfsTer17
NM_001354903.2:c.2661_2662delinsT NP_001341832.1:p.Glu887AspfsTer17
NM_001354904.2:c.2586_2587delinsT NP_001341833.1:p.Glu862AspfsTer17
NM_001354905.2:c.2484_2485delinsT NP_001341834.1:p.Glu828AspfsTer17
NM_001354906.2:c.2115_2116delinsT NP_001341835.1:p.Glu705AspfsTer17