Canonical Allele Identifier: CA2582341315

Gene: APC

Linked Data

• ClinVar Variation Id: 2583624
• ClinVar RCV Id: RCV003337489

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112834974_112834990del , CM000667.2:g.112834974_112834990del	GRCh38
NC_000005.9:g.112170671_112170687del , CM000667.1:g.112170671_112170687del	GRCh37
NC_000005.8:g.112198570_112198586del	NCBI36
NG_008481.4:g.147454_147470del , LRG_130:g.147454_147470del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1432_1448del	ENSP00000484935.2:p.Glu478CysfsTer15
ENST00000504915.3:c.1821_1837del	ENSP00000473355.2:p.Leu607PhefsTer7
ENST00000505350.2:c.*1773_*1789del	ENSP00000481752.1:n.*1773_*1789del
ENST00000507379.6:c.1713_1729del	ENSP00000423224.2:p.Leu571PhefsTer7
ENST00000509732.6:c.1767_1783del	ENSP00000426541.2:p.Leu589PhefsTer7
ENST00000512211.7:c.1767_1783del	ENSP00000423828.3:p.Leu589PhefsTer7
ENST00000257430.9:c.1767_1783del MANE Select	ENSP00000257430.4:p.Leu589PhefsTer7
ENST00000257430.8:c.1767_1783del	ENSP00000257430.4:p.Leu589PhefsTer7
ENST00000502371.2:c.120_136del
ENST00000504915.2:c.456_472del	ENSP00000473355.1:p.Leu152PhefsTer7
ENST00000507379.5:c.1713_1729del	ENSP00000423224.1:p.Leu571PhefsTer7
ENST00000508376.6:c.1767_1783del	ENSP00000427089.2:p.Leu589PhefsTer7
ENST00000508624.5:c.*1089_*1105del	ENSP00000424265.1:n.*1089_*1105del
ENST00000512211.6:c.1767_1783del	ENSP00000423828.2:p.Leu589PhefsTer7
ENST00000520401.1:c.230+6002_230+6018del
NM_000038.5:c.1767_1783del	NP_000029.2:p.Leu589PhefsTer7
NM_001127510.2:c.1767_1783del	NP_001120982.1:p.Leu589PhefsTer7
NM_001127511.2:c.1713_1729del	NP_001120983.2:p.Leu571PhefsTer7
NM_001354895.1:c.1767_1783del	NP_001341824.1:p.Leu589PhefsTer7
NM_001354896.1:c.1821_1837del	NP_001341825.1:p.Leu607PhefsTer7
NM_001354897.1:c.1797_1813del	NP_001341826.1:p.Leu599PhefsTer7
NM_001354898.1:c.1692_1708del	NP_001341827.1:p.Leu564PhefsTer7
NM_001354899.1:c.1683_1699del	NP_001341828.1:p.Leu561PhefsTer7
NM_001354900.1:c.1644_1660del	NP_001341829.1:p.Leu548PhefsTer7
NM_001354901.1:c.1590_1606del	NP_001341830.1:p.Leu530PhefsTer7
NM_001354902.1:c.1494_1510del	NP_001341831.1:p.Leu498PhefsTer7
NM_001354903.1:c.1464_1480del	NP_001341832.1:p.Leu488PhefsTer7
NM_001354904.1:c.1389_1405del	NP_001341833.1:p.Leu463PhefsTer7
NM_001354905.1:c.1287_1303del	NP_001341834.1:p.Leu429PhefsTer7
NM_001354906.1:c.918_934del	NP_001341835.1:p.Leu306PhefsTer7
NM_000038.6:c.1767_1783del MANE Select	NP_000029.2:p.Leu589PhefsTer7
NM_001127510.3:c.1767_1783del	NP_001120982.1:p.Leu589PhefsTer7
NM_001127511.3:c.1713_1729del	NP_001120983.2:p.Leu571PhefsTer7
NM_001354895.2:c.1767_1783del	NP_001341824.1:p.Leu589PhefsTer7
NM_001354896.2:c.1821_1837del	NP_001341825.1:p.Leu607PhefsTer7
NM_001354897.2:c.1797_1813del	NP_001341826.1:p.Leu599PhefsTer7
NM_001354898.2:c.1692_1708del	NP_001341827.1:p.Leu564PhefsTer7
NM_001354899.2:c.1683_1699del	NP_001341828.1:p.Leu561PhefsTer7
NM_001354900.2:c.1644_1660del	NP_001341829.1:p.Leu548PhefsTer7
NM_001354901.2:c.1590_1606del	NP_001341830.1:p.Leu530PhefsTer7
NM_001354902.2:c.1494_1510del	NP_001341831.1:p.Leu498PhefsTer7
NM_001354903.2:c.1464_1480del	NP_001341832.1:p.Leu488PhefsTer7
NM_001354904.2:c.1389_1405del	NP_001341833.1:p.Leu463PhefsTer7
NM_001354905.2:c.1287_1303del	NP_001341834.1:p.Leu429PhefsTer7
NM_001354906.2:c.918_934del	NP_001341835.1:p.Leu306PhefsTer7