Canonical Allele Identifier: CA3250114201
Community Standard Title: NM_000038.6(APC):c.2055_2065delinsAAT (p.Trp685Ter)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112837649_112837659delinsAAT , CM000667.2:g.112837649_112837659delinsAAT GRCh38
NC_000005.9:g.112173346_112173356delinsAAT , CM000667.1:g.112173346_112173356delinsAAT GRCh37
NC_000005.8:g.112201245_112201255delinsAAT NCBI36
NG_008481.4:g.150129_150139delinsAAT , LRG_130:g.150129_150139delinsAAT

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.2055_2065delinsAAT MANE Select NP_000029.2:p.Trp685Ter
ENST00000257430.9:c.2055_2065delinsAAT MANE Select ENSP00000257430.4:p.Trp685Ter
NM_000038.5:c.2055_2065delinsAAT NP_000029.2:p.Trp685Ter
NM_001127510.2:c.2055_2065delinsAAT NP_001120982.1:p.Trp685Ter
NM_001127510.3:c.2055_2065delinsAAT NP_001120982.1:p.Trp685Ter
NM_001127511.2:c.2001_2011delinsAAT NP_001120983.2:p.Trp667Ter
NM_001127511.3:c.2001_2011delinsAAT NP_001120983.2:p.Trp667Ter
NM_001354895.1:c.2055_2065delinsAAT NP_001341824.1:p.Trp685Ter
NM_001354895.2:c.2055_2065delinsAAT NP_001341824.1:p.Trp685Ter
NM_001354896.1:c.2109_2119delinsAAT NP_001341825.1:p.Trp703Ter
NM_001354896.2:c.2109_2119delinsAAT NP_001341825.1:p.Trp703Ter
NM_001354897.1:c.2085_2095delinsAAT NP_001341826.1:p.Trp695Ter
NM_001354897.2:c.2085_2095delinsAAT NP_001341826.1:p.Trp695Ter
NM_001354898.1:c.1980_1990delinsAAT NP_001341827.1:p.Trp660Ter
NM_001354898.2:c.1980_1990delinsAAT NP_001341827.1:p.Trp660Ter
NM_001354899.1:c.1971_1981delinsAAT NP_001341828.1:p.Trp657Ter
NM_001354899.2:c.1971_1981delinsAAT NP_001341828.1:p.Trp657Ter
NM_001354900.1:c.1932_1942delinsAAT NP_001341829.1:p.Trp644Ter
NM_001354900.2:c.1932_1942delinsAAT NP_001341829.1:p.Trp644Ter
NM_001354901.1:c.1878_1888delinsAAT NP_001341830.1:p.Trp626Ter
NM_001354901.2:c.1878_1888delinsAAT NP_001341830.1:p.Trp626Ter
NM_001354902.1:c.1782_1792delinsAAT NP_001341831.1:p.Trp594Ter
NM_001354902.2:c.1782_1792delinsAAT NP_001341831.1:p.Trp594Ter
NM_001354903.1:c.1752_1762delinsAAT NP_001341832.1:p.Trp584Ter
NM_001354903.2:c.1752_1762delinsAAT NP_001341832.1:p.Trp584Ter
NM_001354904.1:c.1677_1687delinsAAT NP_001341833.1:p.Trp559Ter
NM_001354904.2:c.1677_1687delinsAAT NP_001341833.1:p.Trp559Ter
NM_001354905.1:c.1575_1585delinsAAT NP_001341834.1:p.Trp525Ter
NM_001354905.2:c.1575_1585delinsAAT NP_001341834.1:p.Trp525Ter
NM_001354906.1:c.1206_1216delinsAAT NP_001341835.1:p.Trp402Ter
NM_001354906.2:c.1206_1216delinsAAT NP_001341835.1:p.Trp402Ter
ENST00000257430.8:c.2055_2065delinsAAT ENSP00000257430.4:p.Trp685Ter
ENST00000502371.2:c.408_418delinsAAT
ENST00000502371.3:c.1720_1730delinsAAT ENSP00000484935.2:n.1720_1730delinsAAT
ENST00000504915.2:c.744_754delinsAAT ENSP00000473355.1:p.Trp248Ter
ENST00000504915.3:c.2109_2119delinsAAT ENSP00000473355.2:p.Trp703Ter
ENST00000505350.2:c.*2061_*2071delinsAAT ENSP00000481752.1:n.*2061_*2071delinsAAT
ENST00000507379.5:c.2001_2011delinsAAT ENSP00000423224.1:p.Trp667Ter
ENST00000507379.6:c.2001_2011delinsAAT ENSP00000423224.2:p.Trp667Ter
ENST00000508376.6:c.2055_2065delinsAAT ENSP00000427089.2:p.Trp685Ter
ENST00000508624.5:c.*1377_*1387delinsAAT ENSP00000424265.1:n.*1377_*1387delinsAAT
ENST00000509732.6:c.2055_2065delinsAAT ENSP00000426541.2:p.Trp685Ter
ENST00000512211.6:c.2055_2065delinsAAT ENSP00000423828.2:p.Trp685Ter
ENST00000512211.7:c.2055_2065delinsAAT ENSP00000423828.3:p.Trp685Ter
ENST00000520401.1:c.230+8677_230+8687delinsAAT