Canonical Allele Identifier: CA2582341264
Community Standard Title: NM_000038.6(APC):c.851_854del (p.Met284ThrfsTer8)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112815511_112815514del , CM000667.2:g.112815511_112815514del GRCh38
NC_000005.9:g.112151208_112151211del , CM000667.1:g.112151208_112151211del GRCh37
NC_000005.8:g.112179107_112179110del NCBI36
NG_008481.4:g.127991_127994del , LRG_130:g.127991_127994del

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.851_854del MANE Select NP_000029.2:p.Met284ThrfsTer8
ENST00000257430.9:c.851_854del MANE Select ENSP00000257430.4:p.Met284ThrfsTer8
NM_000038.5:c.851_854del NP_000029.2:p.Met284ThrfsTer8
NM_001127510.2:c.851_854del NP_001120982.1:p.Met284ThrfsTer8
NM_001127510.3:c.851_854del NP_001120982.1:p.Met284ThrfsTer8
NM_001127511.2:c.797_800del NP_001120983.2:p.Met266ThrfsTer8
NM_001127511.3:c.797_800del NP_001120983.2:p.Met266ThrfsTer8
NM_001354895.1:c.851_854del NP_001341824.1:p.Met284ThrfsTer8
NM_001354895.2:c.851_854del NP_001341824.1:p.Met284ThrfsTer8
NM_001354896.1:c.851_854del NP_001341825.1:p.Met284ThrfsTer8
NM_001354896.2:c.851_854del NP_001341825.1:p.Met284ThrfsTer8
NM_001354897.1:c.881_884del NP_001341826.1:p.Met294ThrfsTer8
NM_001354897.2:c.881_884del NP_001341826.1:p.Met294ThrfsTer8
NM_001354898.1:c.776_779del NP_001341827.1:p.Met259ThrfsTer8
NM_001354898.2:c.776_779del NP_001341827.1:p.Met259ThrfsTer8
NM_001354899.1:c.767_770del NP_001341828.1:p.Met256ThrfsTer8
NM_001354899.2:c.767_770del NP_001341828.1:p.Met256ThrfsTer8
NM_001354900.1:c.674_677del NP_001341829.1:p.Met225ThrfsTer8
NM_001354900.2:c.674_677del NP_001341829.1:p.Met225ThrfsTer8
NM_001354901.1:c.674_677del NP_001341830.1:p.Met225ThrfsTer8
NM_001354901.2:c.674_677del NP_001341830.1:p.Met225ThrfsTer8
NM_001354902.1:c.881_884del NP_001341831.1:p.Met294ThrfsTer8
NM_001354902.2:c.881_884del NP_001341831.1:p.Met294ThrfsTer8
NM_001354903.1:c.851_854del NP_001341832.1:p.Met284ThrfsTer8
NM_001354903.2:c.851_854del NP_001341832.1:p.Met284ThrfsTer8
NM_001354904.1:c.776_779del NP_001341833.1:p.Met259ThrfsTer8
NM_001354904.2:c.776_779del NP_001341833.1:p.Met259ThrfsTer8
NM_001354905.1:c.674_677del NP_001341834.1:p.Met225ThrfsTer8
NM_001354905.2:c.674_677del NP_001341834.1:p.Met225ThrfsTer8
NM_001354906.1:c.2_5del NP_001341835.1:p.Met1ThrfsTer8
NM_001354906.2:c.2_5del NP_001341835.1:p.Met1ThrfsTer8
ENST00000257430.8:c.851_854del ENSP00000257430.4:p.Met284ThrfsTer8
ENST00000502371.3:c.851_854del ENSP00000484935.2:p.Met284ThrfsTer8
ENST00000504915.3:c.851_854del ENSP00000473355.2:p.Met284ThrfsTer8
ENST00000505084.2:n.907_910del
ENST00000505350.2:c.*857_*860del ENSP00000481752.1:n.*857_*860del
ENST00000507379.5:c.797_800del ENSP00000423224.1:p.Met266ThrfsTer8
ENST00000507379.6:c.797_800del ENSP00000423224.2:p.Met266ThrfsTer8
ENST00000508376.6:c.851_854del ENSP00000427089.2:p.Met284ThrfsTer8
ENST00000508624.5:c.*173_*176del ENSP00000424265.1:n.*173_*176del
ENST00000509732.6:c.851_854del ENSP00000426541.2:p.Met284ThrfsTer8
ENST00000512211.6:c.851_854del ENSP00000423828.2:p.Met284ThrfsTer8
ENST00000512211.7:c.851_854del ENSP00000423828.3:p.Met284ThrfsTer8