Canonical Allele Identifier: CA1139770823
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2584006

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112840846del , CM000667.2:g.112840846del GRCh38
NC_000005.9:g.112176543del , CM000667.1:g.112176543del GRCh37
NC_000005.8:g.112204442del NCBI36
NG_008481.4:g.153326del , LRG_130:g.153326del

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.5306del ENSP00000473355.2:p.Gln1769ArgfsTer15
ENST00000505350.2:c.*5258del ENSP00000481752.1:n.*5258del
ENST00000507379.6:c.5198del ENSP00000423224.2:p.Gln1733ArgfsTer15
ENST00000509732.6:c.5252del ENSP00000426541.2:p.Gln1751ArgfsTer15
ENST00000512211.7:c.5252del ENSP00000423828.3:p.Gln1751ArgfsTer15
ENST00000257430.9:c.5252del MANE Select ENSP00000257430.4:p.Gln1751ArgfsTer15
ENST00000257430.8:c.5252del ENSP00000257430.4:p.Gln1751ArgfsTer15
ENST00000508376.6:c.5252del ENSP00000427089.2:p.Gln1751ArgfsTer15
ENST00000508624.5:c.*4574del ENSP00000424265.1:n.*4574del
ENST00000520401.1:c.230+11874del
NM_000038.5:c.5252del NP_000029.2:p.Gln1751ArgfsTer15
NM_001127510.2:c.5252del NP_001120982.1:p.Gln1751ArgfsTer15
NM_001127511.2:c.5198del NP_001120983.2:p.Gln1733ArgfsTer15
NM_001354895.1:c.5252del NP_001341824.1:p.Gln1751ArgfsTer15
NM_001354896.1:c.5306del NP_001341825.1:p.Gln1769ArgfsTer15
NM_001354897.1:c.5282del NP_001341826.1:p.Gln1761ArgfsTer15
NM_001354898.1:c.5177del NP_001341827.1:p.Gln1726ArgfsTer15
NM_001354899.1:c.5168del NP_001341828.1:p.Gln1723ArgfsTer15
NM_001354900.1:c.5129del NP_001341829.1:p.Gln1710ArgfsTer15
NM_001354901.1:c.5075del NP_001341830.1:p.Gln1692ArgfsTer15
NM_001354902.1:c.4979del NP_001341831.1:p.Gln1660ArgfsTer15
NM_001354903.1:c.4949del NP_001341832.1:p.Gln1650ArgfsTer15
NM_001354904.1:c.4874del NP_001341833.1:p.Gln1625ArgfsTer15
NM_001354905.1:c.4772del NP_001341834.1:p.Gln1591ArgfsTer15
NM_001354906.1:c.4403del NP_001341835.1:p.Gln1468ArgfsTer15
NM_000038.6:c.5252del MANE Select NP_000029.2:p.Gln1751ArgfsTer15
NM_001127510.3:c.5252del NP_001120982.1:p.Gln1751ArgfsTer15
NM_001127511.3:c.5198del NP_001120983.2:p.Gln1733ArgfsTer15
NM_001354895.2:c.5252del NP_001341824.1:p.Gln1751ArgfsTer15
NM_001354896.2:c.5306del NP_001341825.1:p.Gln1769ArgfsTer15
NM_001354897.2:c.5282del NP_001341826.1:p.Gln1761ArgfsTer15
NM_001354898.2:c.5177del NP_001341827.1:p.Gln1726ArgfsTer15
NM_001354899.2:c.5168del NP_001341828.1:p.Gln1723ArgfsTer15
NM_001354900.2:c.5129del NP_001341829.1:p.Gln1710ArgfsTer15
NM_001354901.2:c.5075del NP_001341830.1:p.Gln1692ArgfsTer15
NM_001354902.2:c.4979del NP_001341831.1:p.Gln1660ArgfsTer15
NM_001354903.2:c.4949del NP_001341832.1:p.Gln1650ArgfsTer15
NM_001354904.2:c.4874del NP_001341833.1:p.Gln1625ArgfsTer15
NM_001354905.2:c.4772del NP_001341834.1:p.Gln1591ArgfsTer15
NM_001354906.2:c.4403del NP_001341835.1:p.Gln1468ArgfsTer15