Canonical Allele Identifier: CA2499217459

Gene: APC

Linked Data

• ClinVar Variation Id: 1071741
• ClinVar RCV Id: RCV003538770
• dbSNP Id: rs2149841774

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835016_112835023dup , CM000667.2:g.112835016_112835023dup	GRCh38
NC_000005.9:g.112170713_112170720dup , CM000667.1:g.112170713_112170720dup	GRCh37
NC_000005.8:g.112198612_112198619dup	NCBI36
NG_008481.4:g.147496_147503dup , LRG_130:g.147496_147503dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1474_1481dup	ENSP00000484935.2:n.1474_1481dup
ENST00000504915.3:c.1863_1870dup	ENSP00000473355.2:p.Ile624LysfsTer7
ENST00000505350.2:c.*1815_*1822dup	ENSP00000481752.1:n.*1815_*1822dup
ENST00000507379.6:c.1755_1762dup	ENSP00000423224.2:p.Ile588LysfsTer7
ENST00000509732.6:c.1809_1816dup	ENSP00000426541.2:p.Ile606LysfsTer7
ENST00000512211.7:c.1809_1816dup	ENSP00000423828.3:p.Ile606LysfsTer7
ENST00000257430.9:c.1809_1816dup MANE Select	ENSP00000257430.4:p.Ile606LysfsTer7
ENST00000257430.8:c.1809_1816dup	ENSP00000257430.4:p.Ile606LysfsTer7
ENST00000502371.2:c.162_169dup
ENST00000504915.2:c.498_505dup	ENSP00000473355.1:p.Ile169LysfsTer7
ENST00000507379.5:c.1755_1762dup	ENSP00000423224.1:p.Ile588LysfsTer7
ENST00000508376.6:c.1809_1816dup	ENSP00000427089.2:p.Ile606LysfsTer7
ENST00000508624.5:c.*1131_*1138dup	ENSP00000424265.1:n.*1131_*1138dup
ENST00000512211.6:c.1809_1816dup	ENSP00000423828.2:p.Ile606LysfsTer7
ENST00000520401.1:c.230+6044_230+6051dup
NM_000038.5:c.1809_1816dup	NP_000029.2:p.Ile606LysfsTer7
NM_001127510.2:c.1809_1816dup	NP_001120982.1:p.Ile606LysfsTer7
NM_001127511.2:c.1755_1762dup	NP_001120983.2:p.Ile588LysfsTer7
NM_001354895.1:c.1809_1816dup	NP_001341824.1:p.Ile606LysfsTer7
NM_001354896.1:c.1863_1870dup	NP_001341825.1:p.Ile624LysfsTer7
NM_001354897.1:c.1839_1846dup	NP_001341826.1:p.Ile616LysfsTer7
NM_001354898.1:c.1734_1741dup	NP_001341827.1:p.Ile581LysfsTer7
NM_001354899.1:c.1725_1732dup	NP_001341828.1:p.Ile578LysfsTer7
NM_001354900.1:c.1686_1693dup	NP_001341829.1:p.Ile565LysfsTer7
NM_001354901.1:c.1632_1639dup	NP_001341830.1:p.Ile547LysfsTer7
NM_001354902.1:c.1536_1543dup	NP_001341831.1:p.Ile515LysfsTer7
NM_001354903.1:c.1506_1513dup	NP_001341832.1:p.Ile505LysfsTer7
NM_001354904.1:c.1431_1438dup	NP_001341833.1:p.Ile480LysfsTer7
NM_001354905.1:c.1329_1336dup	NP_001341834.1:p.Ile446LysfsTer7
NM_001354906.1:c.960_967dup	NP_001341835.1:p.Ile323LysfsTer7
NM_000038.6:c.1809_1816dup MANE Select	NP_000029.2:p.Ile606LysfsTer7
NM_001127510.3:c.1809_1816dup	NP_001120982.1:p.Ile606LysfsTer7
NM_001127511.3:c.1755_1762dup	NP_001120983.2:p.Ile588LysfsTer7
NM_001354895.2:c.1809_1816dup	NP_001341824.1:p.Ile606LysfsTer7
NM_001354896.2:c.1863_1870dup	NP_001341825.1:p.Ile624LysfsTer7
NM_001354897.2:c.1839_1846dup	NP_001341826.1:p.Ile616LysfsTer7
NM_001354898.2:c.1734_1741dup	NP_001341827.1:p.Ile581LysfsTer7
NM_001354899.2:c.1725_1732dup	NP_001341828.1:p.Ile578LysfsTer7
NM_001354900.2:c.1686_1693dup	NP_001341829.1:p.Ile565LysfsTer7
NM_001354901.2:c.1632_1639dup	NP_001341830.1:p.Ile547LysfsTer7
NM_001354902.2:c.1536_1543dup	NP_001341831.1:p.Ile515LysfsTer7
NM_001354903.2:c.1506_1513dup	NP_001341832.1:p.Ile505LysfsTer7
NM_001354904.2:c.1431_1438dup	NP_001341833.1:p.Ile480LysfsTer7
NM_001354905.2:c.1329_1336dup	NP_001341834.1:p.Ile446LysfsTer7
NM_001354906.2:c.960_967dup	NP_001341835.1:p.Ile323LysfsTer7