Canonical Allele Identifier: CA2573138913

Gene: APC

Linked Data

• ClinVar Variation Id: 1685523
• ClinVar RCV Id: RCV002249250
• dbSNP Id: rs2149841625

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835005del , CM000667.2:g.112835005del	GRCh38
NC_000005.9:g.112170702del , CM000667.1:g.112170702del	GRCh37
NC_000005.8:g.112198601del	NCBI36
NG_008481.4:g.147485del , LRG_130:g.147485del

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1463del	ENSP00000484935.2:p.His488ProfsTer?
ENST00000504915.3:c.1852del	ENSP00000473355.2:p.Thr618LeufsTer10
ENST00000505350.2:c.*1804del	ENSP00000481752.1:n.*1804del
ENST00000507379.6:c.1744del	ENSP00000423224.2:p.Thr582LeufsTer10
ENST00000509732.6:c.1798del	ENSP00000426541.2:p.Thr600LeufsTer10
ENST00000512211.7:c.1798del	ENSP00000423828.3:p.Thr600LeufsTer10
ENST00000257430.9:c.1798del MANE Select	ENSP00000257430.4:p.Thr600LeufsTer10
ENST00000257430.8:c.1798del	ENSP00000257430.4:p.Thr600LeufsTer10
ENST00000502371.2:c.151del
ENST00000504915.2:c.487del	ENSP00000473355.1:p.Thr163LeufsTer10
ENST00000507379.5:c.1744del	ENSP00000423224.1:p.Thr582LeufsTer10
ENST00000508376.6:c.1798del	ENSP00000427089.2:p.Thr600LeufsTer10
ENST00000508624.5:c.*1120del	ENSP00000424265.1:n.*1120del
ENST00000512211.6:c.1798del	ENSP00000423828.2:p.Thr600LeufsTer10
ENST00000520401.1:c.230+6033del
NM_000038.5:c.1798del	NP_000029.2:p.Thr600LeufsTer10
NM_001127510.2:c.1798del	NP_001120982.1:p.Thr600LeufsTer10
NM_001127511.2:c.1744del	NP_001120983.2:p.Thr582LeufsTer10
NM_001354895.1:c.1798del	NP_001341824.1:p.Thr600LeufsTer10
NM_001354896.1:c.1852del	NP_001341825.1:p.Thr618LeufsTer10
NM_001354897.1:c.1828del	NP_001341826.1:p.Thr610LeufsTer10
NM_001354898.1:c.1723del	NP_001341827.1:p.Thr575LeufsTer10
NM_001354899.1:c.1714del	NP_001341828.1:p.Thr572LeufsTer10
NM_001354900.1:c.1675del	NP_001341829.1:p.Thr559LeufsTer10
NM_001354901.1:c.1621del	NP_001341830.1:p.Thr541LeufsTer10
NM_001354902.1:c.1525del	NP_001341831.1:p.Thr509LeufsTer10
NM_001354903.1:c.1495del	NP_001341832.1:p.Thr499LeufsTer10
NM_001354904.1:c.1420del	NP_001341833.1:p.Thr474LeufsTer10
NM_001354905.1:c.1318del	NP_001341834.1:p.Thr440LeufsTer10
NM_001354906.1:c.949del	NP_001341835.1:p.Thr317LeufsTer10
NM_000038.6:c.1798del MANE Select	NP_000029.2:p.Thr600LeufsTer10
NM_001127510.3:c.1798del	NP_001120982.1:p.Thr600LeufsTer10
NM_001127511.3:c.1744del	NP_001120983.2:p.Thr582LeufsTer10
NM_001354895.2:c.1798del	NP_001341824.1:p.Thr600LeufsTer10
NM_001354896.2:c.1852del	NP_001341825.1:p.Thr618LeufsTer10
NM_001354897.2:c.1828del	NP_001341826.1:p.Thr610LeufsTer10
NM_001354898.2:c.1723del	NP_001341827.1:p.Thr575LeufsTer10
NM_001354899.2:c.1714del	NP_001341828.1:p.Thr572LeufsTer10
NM_001354900.2:c.1675del	NP_001341829.1:p.Thr559LeufsTer10
NM_001354901.2:c.1621del	NP_001341830.1:p.Thr541LeufsTer10
NM_001354902.2:c.1525del	NP_001341831.1:p.Thr509LeufsTer10
NM_001354903.2:c.1495del	NP_001341832.1:p.Thr499LeufsTer10
NM_001354904.2:c.1420del	NP_001341833.1:p.Thr474LeufsTer10
NM_001354905.2:c.1318del	NP_001341834.1:p.Thr440LeufsTer10
NM_001354906.2:c.949del	NP_001341835.1:p.Thr317LeufsTer10