Canonical Allele Identifier: CA2580072818

Gene: APC

Linked Data

• ClinVar Variation Id: 1709677
• ClinVar RCV Id: RCV002289492

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838618dup , CM000667.2:g.112838618dup	GRCh38
NC_000005.9:g.112174315dup , CM000667.1:g.112174315dup	GRCh37
NC_000005.8:g.112202214dup	NCBI36
NG_008481.4:g.151098dup , LRG_130:g.151098dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2689dup	ENSP00000484935.2:n.2689dup
ENST00000504915.3:c.3078dup	ENSP00000473355.2:p.His1027ThrfsTer2
ENST00000505350.2:c.*3030dup	ENSP00000481752.1:n.*3030dup
ENST00000507379.6:c.2970dup	ENSP00000423224.2:p.His991ThrfsTer2
ENST00000509732.6:c.3024dup	ENSP00000426541.2:p.His1009ThrfsTer2
ENST00000512211.7:c.3024dup	ENSP00000423828.3:p.His1009ThrfsTer2
ENST00000257430.9:c.3024dup MANE Select	ENSP00000257430.4:p.His1009ThrfsTer2
ENST00000257430.8:c.3024dup	ENSP00000257430.4:p.His1009ThrfsTer2
ENST00000502371.2:c.1377dup
ENST00000507379.5:c.2970dup	ENSP00000423224.1:p.His991ThrfsTer2
ENST00000508376.6:c.3024dup	ENSP00000427089.2:p.His1009ThrfsTer2
ENST00000508624.5:c.*2346dup	ENSP00000424265.1:n.*2346dup
ENST00000512211.6:c.3024dup	ENSP00000423828.2:p.His1009ThrfsTer2
ENST00000520401.1:c.230+9646dup
NM_000038.5:c.3024dup	NP_000029.2:p.His1009ThrfsTer2
NM_001127510.2:c.3024dup	NP_001120982.1:p.His1009ThrfsTer2
NM_001127511.2:c.2970dup	NP_001120983.2:p.His991ThrfsTer2
NM_001354895.1:c.3024dup	NP_001341824.1:p.His1009ThrfsTer2
NM_001354896.1:c.3078dup	NP_001341825.1:p.His1027ThrfsTer2
NM_001354897.1:c.3054dup	NP_001341826.1:p.His1019ThrfsTer2
NM_001354898.1:c.2949dup	NP_001341827.1:p.His984ThrfsTer2
NM_001354899.1:c.2940dup	NP_001341828.1:p.His981ThrfsTer2
NM_001354900.1:c.2901dup	NP_001341829.1:p.His968ThrfsTer2
NM_001354901.1:c.2847dup	NP_001341830.1:p.His950ThrfsTer2
NM_001354902.1:c.2751dup	NP_001341831.1:p.His918ThrfsTer2
NM_001354903.1:c.2721dup	NP_001341832.1:p.His908ThrfsTer2
NM_001354904.1:c.2646dup	NP_001341833.1:p.His883ThrfsTer2
NM_001354905.1:c.2544dup	NP_001341834.1:p.His849ThrfsTer2
NM_001354906.1:c.2175dup	NP_001341835.1:p.His726ThrfsTer2
NM_000038.6:c.3024dup MANE Select	NP_000029.2:p.His1009ThrfsTer2
NM_001127510.3:c.3024dup	NP_001120982.1:p.His1009ThrfsTer2
NM_001127511.3:c.2970dup	NP_001120983.2:p.His991ThrfsTer2
NM_001354895.2:c.3024dup	NP_001341824.1:p.His1009ThrfsTer2
NM_001354896.2:c.3078dup	NP_001341825.1:p.His1027ThrfsTer2
NM_001354897.2:c.3054dup	NP_001341826.1:p.His1019ThrfsTer2
NM_001354898.2:c.2949dup	NP_001341827.1:p.His984ThrfsTer2
NM_001354899.2:c.2940dup	NP_001341828.1:p.His981ThrfsTer2
NM_001354900.2:c.2901dup	NP_001341829.1:p.His968ThrfsTer2
NM_001354901.2:c.2847dup	NP_001341830.1:p.His950ThrfsTer2
NM_001354902.2:c.2751dup	NP_001341831.1:p.His918ThrfsTer2
NM_001354903.2:c.2721dup	NP_001341832.1:p.His908ThrfsTer2
NM_001354904.2:c.2646dup	NP_001341833.1:p.His883ThrfsTer2
NM_001354905.2:c.2544dup	NP_001341834.1:p.His849ThrfsTer2
NM_001354906.2:c.2175dup	NP_001341835.1:p.His726ThrfsTer2