Canonical Allele Identifier: CA1139659002

Gene: APC

Linked Data

• ClinVar Variation Id: 945508
• ClinVar RCV Id: RCV002561882
• dbSNP Id: rs1766443790

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842906_112842908dup , CM000667.2:g.112842906_112842908dup	GRCh38
NC_000005.9:g.112178603_112178605dup , CM000667.1:g.112178603_112178605dup	GRCh37
NC_000005.8:g.112206502_112206504dup	NCBI36
NG_008481.4:g.155386_155388dup , LRG_130:g.155386_155388dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7366_7368dup	ENSP00000473355.2:p.Val2456_Arg2457insVal
ENST00000505350.2:c.*7318_*7320dup	ENSP00000481752.1:n.*7318_*7320dup
ENST00000507379.6:c.7258_7260dup	ENSP00000423224.2:p.Val2420_Arg2421insVal
ENST00000509732.6:c.7312_7314dup	ENSP00000426541.2:p.Val2438_Arg2439insVal
ENST00000512211.7:c.7312_7314dup	ENSP00000423828.3:p.Val2438_Arg2439insVal
ENST00000257430.9:c.7312_7314dup MANE Select	ENSP00000257430.4:p.Val2438_Arg2439insVal
ENST00000257430.8:c.7312_7314dup	ENSP00000257430.4:p.Val2438_Arg2439insVal
ENST00000508376.6:c.7312_7314dup	ENSP00000427089.2:p.Val2438_Arg2439insVal
ENST00000520401.1:c.231-13743_231-13741dup
NM_000038.5:c.7312_7314dup	NP_000029.2:p.Val2438_Arg2439insVal
NM_001127510.2:c.7312_7314dup	NP_001120982.1:p.Val2438_Arg2439insVal
NM_001127511.2:c.7258_7260dup	NP_001120983.2:p.Val2420_Arg2421insVal
NM_001354895.1:c.7312_7314dup	NP_001341824.1:p.Val2438_Arg2439insVal
NM_001354896.1:c.7366_7368dup	NP_001341825.1:p.Val2456_Arg2457insVal
NM_001354897.1:c.7342_7344dup	NP_001341826.1:p.Val2448_Arg2449insVal
NM_001354898.1:c.7237_7239dup	NP_001341827.1:p.Val2413_Arg2414insVal
NM_001354899.1:c.7228_7230dup	NP_001341828.1:p.Val2410_Arg2411insVal
NM_001354900.1:c.7189_7191dup	NP_001341829.1:p.Val2397_Arg2398insVal
NM_001354901.1:c.7135_7137dup	NP_001341830.1:p.Val2379_Arg2380insVal
NM_001354902.1:c.7039_7041dup	NP_001341831.1:p.Val2347_Arg2348insVal
NM_001354903.1:c.7009_7011dup	NP_001341832.1:p.Val2337_Arg2338insVal
NM_001354904.1:c.6934_6936dup	NP_001341833.1:p.Val2312_Arg2313insVal
NM_001354905.1:c.6832_6834dup	NP_001341834.1:p.Val2278_Arg2279insVal
NM_001354906.1:c.6463_6465dup	NP_001341835.1:p.Val2155_Arg2156insVal
NM_000038.6:c.7312_7314dup MANE Select	NP_000029.2:p.Val2438_Arg2439insVal
NM_001127510.3:c.7312_7314dup	NP_001120982.1:p.Val2438_Arg2439insVal
NM_001127511.3:c.7258_7260dup	NP_001120983.2:p.Val2420_Arg2421insVal
NM_001354895.2:c.7312_7314dup	NP_001341824.1:p.Val2438_Arg2439insVal
NM_001354896.2:c.7366_7368dup	NP_001341825.1:p.Val2456_Arg2457insVal
NM_001354897.2:c.7342_7344dup	NP_001341826.1:p.Val2448_Arg2449insVal
NM_001354898.2:c.7237_7239dup	NP_001341827.1:p.Val2413_Arg2414insVal
NM_001354899.2:c.7228_7230dup	NP_001341828.1:p.Val2410_Arg2411insVal
NM_001354900.2:c.7189_7191dup	NP_001341829.1:p.Val2397_Arg2398insVal
NM_001354901.2:c.7135_7137dup	NP_001341830.1:p.Val2379_Arg2380insVal
NM_001354902.2:c.7039_7041dup	NP_001341831.1:p.Val2347_Arg2348insVal
NM_001354903.2:c.7009_7011dup	NP_001341832.1:p.Val2337_Arg2338insVal
NM_001354904.2:c.6934_6936dup	NP_001341833.1:p.Val2312_Arg2313insVal
NM_001354905.2:c.6832_6834dup	NP_001341834.1:p.Val2278_Arg2279insVal
NM_001354906.2:c.6463_6465dup	NP_001341835.1:p.Val2155_Arg2156insVal