Canonical Allele Identifier: CA645509163
Community Standard Title: NM_000038.6(APC):c.6510del (p.Glu2172ArgfsTer10)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112842104del , CM000667.2:g.112842104del GRCh38
NC_000005.9:g.112177801del , CM000667.1:g.112177801del GRCh37
NC_000005.8:g.112205700del NCBI36
NG_008481.4:g.154584del , LRG_130:g.154584del

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.6510del MANE Select NP_000029.2:p.Glu2172ArgfsTer10
ENST00000257430.9:c.6510del MANE Select ENSP00000257430.4:p.Glu2172ArgfsTer10
NM_000038.5:c.6510del NP_000029.2:p.Glu2172ArgfsTer10
NM_001127510.2:c.6510del NP_001120982.1:p.Glu2172ArgfsTer10
NM_001127510.3:c.6510del NP_001120982.1:p.Glu2172ArgfsTer10
NM_001127511.2:c.6456del NP_001120983.2:p.Glu2154ArgfsTer10
NM_001127511.3:c.6456del NP_001120983.2:p.Glu2154ArgfsTer10
NM_001354895.1:c.6510del NP_001341824.1:p.Glu2172ArgfsTer10
NM_001354895.2:c.6510del NP_001341824.1:p.Glu2172ArgfsTer10
NM_001354896.1:c.6564del NP_001341825.1:p.Glu2190ArgfsTer10
NM_001354896.2:c.6564del NP_001341825.1:p.Glu2190ArgfsTer10
NM_001354897.1:c.6540del NP_001341826.1:p.Glu2182ArgfsTer10
NM_001354897.2:c.6540del NP_001341826.1:p.Glu2182ArgfsTer10
NM_001354898.1:c.6435del NP_001341827.1:p.Glu2147ArgfsTer10
NM_001354898.2:c.6435del NP_001341827.1:p.Glu2147ArgfsTer10
NM_001354899.1:c.6426del NP_001341828.1:p.Glu2144ArgfsTer10
NM_001354899.2:c.6426del NP_001341828.1:p.Glu2144ArgfsTer10
NM_001354900.1:c.6387del NP_001341829.1:p.Glu2131ArgfsTer10
NM_001354900.2:c.6387del NP_001341829.1:p.Glu2131ArgfsTer10
NM_001354901.1:c.6333del NP_001341830.1:p.Glu2113ArgfsTer10
NM_001354901.2:c.6333del NP_001341830.1:p.Glu2113ArgfsTer10
NM_001354902.1:c.6237del NP_001341831.1:p.Glu2081ArgfsTer10
NM_001354902.2:c.6237del NP_001341831.1:p.Glu2081ArgfsTer10
NM_001354903.1:c.6207del NP_001341832.1:p.Glu2071ArgfsTer10
NM_001354903.2:c.6207del NP_001341832.1:p.Glu2071ArgfsTer10
NM_001354904.1:c.6132del NP_001341833.1:p.Glu2046ArgfsTer10
NM_001354904.2:c.6132del NP_001341833.1:p.Glu2046ArgfsTer10
NM_001354905.1:c.6030del NP_001341834.1:p.Glu2012ArgfsTer10
NM_001354905.2:c.6030del NP_001341834.1:p.Glu2012ArgfsTer10
NM_001354906.1:c.5661del NP_001341835.1:p.Glu1889ArgfsTer10
NM_001354906.2:c.5661del NP_001341835.1:p.Glu1889ArgfsTer10
ENST00000257430.8:c.6510del ENSP00000257430.4:p.Glu2172ArgfsTer10
ENST00000504915.3:c.6564del ENSP00000473355.2:p.Glu2190ArgfsTer10
ENST00000505350.2:c.*6516del ENSP00000481752.1:n.*6516del
ENST00000507379.6:c.6456del ENSP00000423224.2:p.Glu2154ArgfsTer10
ENST00000508376.6:c.6510del ENSP00000427089.2:p.Glu2172ArgfsTer10
ENST00000508624.5:c.*5832del ENSP00000424265.1:n.*5832del
ENST00000509732.6:c.6510del ENSP00000426541.2:p.Glu2172ArgfsTer10
ENST00000512211.7:c.6510del ENSP00000423828.3:p.Glu2172ArgfsTer10
ENST00000520401.1:c.230+13132del