Canonical Allele Identifier: CA2580072564

Gene: APC

Linked Data

• ClinVar Variation Id: 1709557
• ClinVar RCV Id: RCV002289372

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840355_112840356del , CM000667.2:g.112840355_112840356del	GRCh38
NC_000005.9:g.112176052_112176053del , CM000667.1:g.112176052_112176053del	GRCh37
NC_000005.8:g.112203951_112203952del	NCBI36
NG_008481.4:g.152835_152836del , LRG_130:g.152835_152836del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4815_4816del	ENSP00000473355.2:p.Ser1606ThrfsTer2
ENST00000505350.2:c.*4767_*4768del	ENSP00000481752.1:n.*4767_*4768del
ENST00000507379.6:c.4707_4708del	ENSP00000423224.2:p.Ser1570ThrfsTer2
ENST00000509732.6:c.4761_4762del	ENSP00000426541.2:p.Ser1588ThrfsTer2
ENST00000512211.7:c.4761_4762del	ENSP00000423828.3:p.Ser1588ThrfsTer2
ENST00000257430.9:c.4761_4762del MANE Select	ENSP00000257430.4:p.Ser1588ThrfsTer2
ENST00000257430.8:c.4761_4762del	ENSP00000257430.4:p.Ser1588ThrfsTer2
ENST00000508376.6:c.4761_4762del	ENSP00000427089.2:p.Ser1588ThrfsTer2
ENST00000508624.5:c.*4083_*4084del	ENSP00000424265.1:n.*4083_*4084del
ENST00000520401.1:c.230+11383_230+11384del
NM_000038.5:c.4761_4762del	NP_000029.2:p.Ser1588ThrfsTer2
NM_001127510.2:c.4761_4762del	NP_001120982.1:p.Ser1588ThrfsTer2
NM_001127511.2:c.4707_4708del	NP_001120983.2:p.Ser1570ThrfsTer2
NM_001354895.1:c.4761_4762del	NP_001341824.1:p.Ser1588ThrfsTer2
NM_001354896.1:c.4815_4816del	NP_001341825.1:p.Ser1606ThrfsTer2
NM_001354897.1:c.4791_4792del	NP_001341826.1:p.Ser1598ThrfsTer2
NM_001354898.1:c.4686_4687del	NP_001341827.1:p.Ser1563ThrfsTer2
NM_001354899.1:c.4677_4678del	NP_001341828.1:p.Ser1560ThrfsTer2
NM_001354900.1:c.4638_4639del	NP_001341829.1:p.Ser1547ThrfsTer2
NM_001354901.1:c.4584_4585del	NP_001341830.1:p.Ser1529ThrfsTer2
NM_001354902.1:c.4488_4489del	NP_001341831.1:p.Ser1497ThrfsTer2
NM_001354903.1:c.4458_4459del	NP_001341832.1:p.Ser1487ThrfsTer2
NM_001354904.1:c.4383_4384del	NP_001341833.1:p.Ser1462ThrfsTer2
NM_001354905.1:c.4281_4282del	NP_001341834.1:p.Ser1428ThrfsTer2
NM_001354906.1:c.3912_3913del	NP_001341835.1:p.Ser1305ThrfsTer2
NM_000038.6:c.4761_4762del MANE Select	NP_000029.2:p.Ser1588ThrfsTer2
NM_001127510.3:c.4761_4762del	NP_001120982.1:p.Ser1588ThrfsTer2
NM_001127511.3:c.4707_4708del	NP_001120983.2:p.Ser1570ThrfsTer2
NM_001354895.2:c.4761_4762del	NP_001341824.1:p.Ser1588ThrfsTer2
NM_001354896.2:c.4815_4816del	NP_001341825.1:p.Ser1606ThrfsTer2
NM_001354897.2:c.4791_4792del	NP_001341826.1:p.Ser1598ThrfsTer2
NM_001354898.2:c.4686_4687del	NP_001341827.1:p.Ser1563ThrfsTer2
NM_001354899.2:c.4677_4678del	NP_001341828.1:p.Ser1560ThrfsTer2
NM_001354900.2:c.4638_4639del	NP_001341829.1:p.Ser1547ThrfsTer2
NM_001354901.2:c.4584_4585del	NP_001341830.1:p.Ser1529ThrfsTer2
NM_001354902.2:c.4488_4489del	NP_001341831.1:p.Ser1497ThrfsTer2
NM_001354903.2:c.4458_4459del	NP_001341832.1:p.Ser1487ThrfsTer2
NM_001354904.2:c.4383_4384del	NP_001341833.1:p.Ser1462ThrfsTer2
NM_001354905.2:c.4281_4282del	NP_001341834.1:p.Ser1428ThrfsTer2
NM_001354906.2:c.3912_3913del	NP_001341835.1:p.Ser1305ThrfsTer2