Canonical Allele Identifier: CA2582341324

Gene: APC

Linked Data

• ClinVar Variation Id: 2583888
• ClinVar RCV Id: RCV003334810

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835013_112835016del , CM000667.2:g.112835013_112835016del	GRCh38
NC_000005.9:g.112170710_112170713del , CM000667.1:g.112170710_112170713del	GRCh37
NC_000005.8:g.112198609_112198612del	NCBI36
NG_008481.4:g.147493_147496del , LRG_130:g.147493_147496del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1471_1474del	ENSP00000484935.2:n.1471_1474del
ENST00000504915.3:c.1860_1863del	ENSP00000473355.2:p.Asn620LysfsTer7
ENST00000505350.2:c.*1812_*1815del	ENSP00000481752.1:n.*1812_*1815del
ENST00000507379.6:c.1752_1755del	ENSP00000423224.2:p.Asn584LysfsTer7
ENST00000509732.6:c.1806_1809del	ENSP00000426541.2:p.Asn602LysfsTer7
ENST00000512211.7:c.1806_1809del	ENSP00000423828.3:p.Asn602LysfsTer7
ENST00000257430.9:c.1806_1809del MANE Select	ENSP00000257430.4:p.Asn602LysfsTer7
ENST00000257430.8:c.1806_1809del	ENSP00000257430.4:p.Asn602LysfsTer7
ENST00000502371.2:c.159_162del
ENST00000504915.2:c.495_498del	ENSP00000473355.1:p.Asn165LysfsTer7
ENST00000507379.5:c.1752_1755del	ENSP00000423224.1:p.Asn584LysfsTer7
ENST00000508376.6:c.1806_1809del	ENSP00000427089.2:p.Asn602LysfsTer7
ENST00000508624.5:c.*1128_*1131del	ENSP00000424265.1:n.*1128_*1131del
ENST00000512211.6:c.1806_1809del	ENSP00000423828.2:p.Asn602LysfsTer7
ENST00000520401.1:c.230+6041_230+6044del
NM_000038.5:c.1806_1809del	NP_000029.2:p.Asn602LysfsTer7
NM_001127510.2:c.1806_1809del	NP_001120982.1:p.Asn602LysfsTer7
NM_001127511.2:c.1752_1755del	NP_001120983.2:p.Asn584LysfsTer7
NM_001354895.1:c.1806_1809del	NP_001341824.1:p.Asn602LysfsTer7
NM_001354896.1:c.1860_1863del	NP_001341825.1:p.Asn620LysfsTer7
NM_001354897.1:c.1836_1839del	NP_001341826.1:p.Asn612LysfsTer7
NM_001354898.1:c.1731_1734del	NP_001341827.1:p.Asn577LysfsTer7
NM_001354899.1:c.1722_1725del	NP_001341828.1:p.Asn574LysfsTer7
NM_001354900.1:c.1683_1686del	NP_001341829.1:p.Asn561LysfsTer7
NM_001354901.1:c.1629_1632del	NP_001341830.1:p.Asn543LysfsTer7
NM_001354902.1:c.1533_1536del	NP_001341831.1:p.Asn511LysfsTer7
NM_001354903.1:c.1503_1506del	NP_001341832.1:p.Asn501LysfsTer7
NM_001354904.1:c.1428_1431del	NP_001341833.1:p.Asn476LysfsTer7
NM_001354905.1:c.1326_1329del	NP_001341834.1:p.Asn442LysfsTer7
NM_001354906.1:c.957_960del	NP_001341835.1:p.Asn319LysfsTer7
NM_000038.6:c.1806_1809del MANE Select	NP_000029.2:p.Asn602LysfsTer7
NM_001127510.3:c.1806_1809del	NP_001120982.1:p.Asn602LysfsTer7
NM_001127511.3:c.1752_1755del	NP_001120983.2:p.Asn584LysfsTer7
NM_001354895.2:c.1806_1809del	NP_001341824.1:p.Asn602LysfsTer7
NM_001354896.2:c.1860_1863del	NP_001341825.1:p.Asn620LysfsTer7
NM_001354897.2:c.1836_1839del	NP_001341826.1:p.Asn612LysfsTer7
NM_001354898.2:c.1731_1734del	NP_001341827.1:p.Asn577LysfsTer7
NM_001354899.2:c.1722_1725del	NP_001341828.1:p.Asn574LysfsTer7
NM_001354900.2:c.1683_1686del	NP_001341829.1:p.Asn561LysfsTer7
NM_001354901.2:c.1629_1632del	NP_001341830.1:p.Asn543LysfsTer7
NM_001354902.2:c.1533_1536del	NP_001341831.1:p.Asn511LysfsTer7
NM_001354903.2:c.1503_1506del	NP_001341832.1:p.Asn501LysfsTer7
NM_001354904.2:c.1428_1431del	NP_001341833.1:p.Asn476LysfsTer7
NM_001354905.2:c.1326_1329del	NP_001341834.1:p.Asn442LysfsTer7
NM_001354906.2:c.957_960del	NP_001341835.1:p.Asn319LysfsTer7