Canonical Allele Identifier: CA3261345290
Community Standard Title: NM_000038.6(APC):c.6041_6100del (p.Val2014_Ser2034delinsAla)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112841635_112841694del , CM000667.2:g.112841635_112841694del GRCh38
NC_000005.9:g.112177332_112177391del , CM000667.1:g.112177332_112177391del GRCh37
NC_000005.8:g.112205231_112205290del NCBI36
NG_008481.4:g.154115_154174del , LRG_130:g.154115_154174del

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.6041_6100del MANE Select NP_000029.2:p.Val2014_Ser2034delinsAla
ENST00000257430.9:c.6041_6100del MANE Select ENSP00000257430.4:p.Val2014_Ser2034delinsAla
NM_000038.5:c.6041_6100del NP_000029.2:p.Val2014_Ser2034delinsAla
NM_001127510.2:c.6041_6100del NP_001120982.1:p.Val2014_Ser2034delinsAla
NM_001127510.3:c.6041_6100del NP_001120982.1:p.Val2014_Ser2034delinsAla
NM_001127511.2:c.5987_6046del NP_001120983.2:p.Val1996_Ser2016delinsAla
NM_001127511.3:c.5987_6046del NP_001120983.2:p.Val1996_Ser2016delinsAla
NM_001354895.1:c.6041_6100del NP_001341824.1:p.Val2014_Ser2034delinsAla
NM_001354895.2:c.6041_6100del NP_001341824.1:p.Val2014_Ser2034delinsAla
NM_001354896.1:c.6095_6154del NP_001341825.1:p.Val2032_Ser2052delinsAla
NM_001354896.2:c.6095_6154del NP_001341825.1:p.Val2032_Ser2052delinsAla
NM_001354897.1:c.6071_6130del NP_001341826.1:p.Val2024_Ser2044delinsAla
NM_001354897.2:c.6071_6130del NP_001341826.1:p.Val2024_Ser2044delinsAla
NM_001354898.1:c.5966_6025del NP_001341827.1:p.Val1989_Ser2009delinsAla
NM_001354898.2:c.5966_6025del NP_001341827.1:p.Val1989_Ser2009delinsAla
NM_001354899.1:c.5957_6016del NP_001341828.1:p.Val1986_Ser2006delinsAla
NM_001354899.2:c.5957_6016del NP_001341828.1:p.Val1986_Ser2006delinsAla
NM_001354900.1:c.5918_5977del NP_001341829.1:p.Val1973_Ser1993delinsAla
NM_001354900.2:c.5918_5977del NP_001341829.1:p.Val1973_Ser1993delinsAla
NM_001354901.1:c.5864_5923del NP_001341830.1:p.Val1955_Ser1975delinsAla
NM_001354901.2:c.5864_5923del NP_001341830.1:p.Val1955_Ser1975delinsAla
NM_001354902.1:c.5768_5827del NP_001341831.1:p.Val1923_Ser1943delinsAla
NM_001354902.2:c.5768_5827del NP_001341831.1:p.Val1923_Ser1943delinsAla
NM_001354903.1:c.5738_5797del NP_001341832.1:p.Val1913_Ser1933delinsAla
NM_001354903.2:c.5738_5797del NP_001341832.1:p.Val1913_Ser1933delinsAla
NM_001354904.1:c.5663_5722del NP_001341833.1:p.Val1888_Ser1908delinsAla
NM_001354904.2:c.5663_5722del NP_001341833.1:p.Val1888_Ser1908delinsAla
NM_001354905.1:c.5561_5620del NP_001341834.1:p.Val1854_Ser1874delinsAla
NM_001354905.2:c.5561_5620del NP_001341834.1:p.Val1854_Ser1874delinsAla
NM_001354906.1:c.5192_5251del NP_001341835.1:p.Val1731_Ser1751delinsAla
NM_001354906.2:c.5192_5251del NP_001341835.1:p.Val1731_Ser1751delinsAla
ENST00000257430.8:c.6041_6100del ENSP00000257430.4:p.Val2014_Ser2034delinsAla
ENST00000504915.3:c.6095_6154del ENSP00000473355.2:p.Val2032_Ser2052delinsAla
ENST00000505350.2:c.*6047_*6106del ENSP00000481752.1:n.*6047_*6106del
ENST00000507379.6:c.5987_6046del ENSP00000423224.2:p.Val1996_Ser2016delinsAla
ENST00000508376.6:c.6041_6100del ENSP00000427089.2:p.Val2014_Ser2034delinsAla
ENST00000508624.5:c.*5363_*5422del ENSP00000424265.1:n.*5363_*5422del
ENST00000509732.6:c.6041_6100del ENSP00000426541.2:p.Val2014_Ser2034delinsAla
ENST00000512211.7:c.6041_6100del ENSP00000423828.3:p.Val2014_Ser2034delinsAla
ENST00000520401.1:c.230+12663_230+12722del