Canonical Allele Identifier: CA2499217468

Gene: APC

Linked Data

• ClinVar Variation Id: 1050476
• ClinVar RCV Id: RCV001357951
• dbSNP Id: rs2149882615

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838620del , CM000667.2:g.112838620del	GRCh38
NC_000005.9:g.112174317del , CM000667.1:g.112174317del	GRCh37
NC_000005.8:g.112202216del	NCBI36
NG_008481.4:g.151100del , LRG_130:g.151100del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2691del	ENSP00000484935.2:n.2691del
ENST00000504915.3:c.3080del	ENSP00000473355.2:p.His1027LeufsTer13
ENST00000505350.2:c.*3032del	ENSP00000481752.1:n.*3032del
ENST00000507379.6:c.2972del	ENSP00000423224.2:p.His991LeufsTer13
ENST00000509732.6:c.3026del	ENSP00000426541.2:p.His1009LeufsTer13
ENST00000512211.7:c.3026del	ENSP00000423828.3:p.His1009LeufsTer13
ENST00000257430.9:c.3026del MANE Select	ENSP00000257430.4:p.His1009LeufsTer13
ENST00000257430.8:c.3026del	ENSP00000257430.4:p.His1009LeufsTer13
ENST00000502371.2:c.1379del
ENST00000507379.5:c.2972del	ENSP00000423224.1:p.His991LeufsTer13
ENST00000508376.6:c.3026del	ENSP00000427089.2:p.His1009LeufsTer13
ENST00000508624.5:c.*2348del	ENSP00000424265.1:n.*2348del
ENST00000512211.6:c.3026del	ENSP00000423828.2:p.His1009LeufsTer13
ENST00000520401.1:c.230+9648del
NM_000038.5:c.3026del	NP_000029.2:p.His1009LeufsTer13
NM_001127510.2:c.3026del	NP_001120982.1:p.His1009LeufsTer13
NM_001127511.2:c.2972del	NP_001120983.2:p.His991LeufsTer13
NM_001354895.1:c.3026del	NP_001341824.1:p.His1009LeufsTer13
NM_001354896.1:c.3080del	NP_001341825.1:p.His1027LeufsTer13
NM_001354897.1:c.3056del	NP_001341826.1:p.His1019LeufsTer13
NM_001354898.1:c.2951del	NP_001341827.1:p.His984LeufsTer13
NM_001354899.1:c.2942del	NP_001341828.1:p.His981LeufsTer13
NM_001354900.1:c.2903del	NP_001341829.1:p.His968LeufsTer13
NM_001354901.1:c.2849del	NP_001341830.1:p.His950LeufsTer13
NM_001354902.1:c.2753del	NP_001341831.1:p.His918LeufsTer13
NM_001354903.1:c.2723del	NP_001341832.1:p.His908LeufsTer13
NM_001354904.1:c.2648del	NP_001341833.1:p.His883LeufsTer13
NM_001354905.1:c.2546del	NP_001341834.1:p.His849LeufsTer13
NM_001354906.1:c.2177del	NP_001341835.1:p.His726LeufsTer13
NM_000038.6:c.3026del MANE Select	NP_000029.2:p.His1009LeufsTer13
NM_001127510.3:c.3026del	NP_001120982.1:p.His1009LeufsTer13
NM_001127511.3:c.2972del	NP_001120983.2:p.His991LeufsTer13
NM_001354895.2:c.3026del	NP_001341824.1:p.His1009LeufsTer13
NM_001354896.2:c.3080del	NP_001341825.1:p.His1027LeufsTer13
NM_001354897.2:c.3056del	NP_001341826.1:p.His1019LeufsTer13
NM_001354898.2:c.2951del	NP_001341827.1:p.His984LeufsTer13
NM_001354899.2:c.2942del	NP_001341828.1:p.His981LeufsTer13
NM_001354900.2:c.2903del	NP_001341829.1:p.His968LeufsTer13
NM_001354901.2:c.2849del	NP_001341830.1:p.His950LeufsTer13
NM_001354902.2:c.2753del	NP_001341831.1:p.His918LeufsTer13
NM_001354903.2:c.2723del	NP_001341832.1:p.His908LeufsTer13
NM_001354904.2:c.2648del	NP_001341833.1:p.His883LeufsTer13
NM_001354905.2:c.2546del	NP_001341834.1:p.His849LeufsTer13
NM_001354906.2:c.2177del	NP_001341835.1:p.His726LeufsTer13