Canonical Allele Identifier: CA913188211

Gene: APC

Linked Data

• ClinVar Variation Id: 924884
• ClinVar RCV Id: RCV001186537 ; RCV003650636
• dbSNP Id: rs780061589

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840866_112840868dup , CM000667.2:g.112840866_112840868dup	GRCh38
NC_000005.9:g.112176563_112176565dup , CM000667.1:g.112176563_112176565dup	GRCh37
NC_000005.8:g.112204462_112204464dup	NCBI36
NG_008481.4:g.153346_153348dup , LRG_130:g.153346_153348dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5326_5328dup	ENSP00000473355.2:p.Ser1776_Ala1777insSer
ENST00000505350.2:c.*5278_*5280dup	ENSP00000481752.1:n.*5278_*5280dup
ENST00000507379.6:c.5218_5220dup	ENSP00000423224.2:p.Ser1740_Ala1741insSer
ENST00000509732.6:c.5272_5274dup	ENSP00000426541.2:p.Ser1758_Ala1759insSer
ENST00000512211.7:c.5272_5274dup	ENSP00000423828.3:p.Ser1758_Ala1759insSer
ENST00000257430.9:c.5272_5274dup MANE Select	ENSP00000257430.4:p.Ser1758_Ala1759insSer
ENST00000257430.8:c.5272_5274dup	ENSP00000257430.4:p.Ser1758_Ala1759insSer
ENST00000508376.6:c.5272_5274dup	ENSP00000427089.2:p.Ser1758_Ala1759insSer
ENST00000508624.5:c.*4594_*4596dup	ENSP00000424265.1:n.*4594_*4596dup
ENST00000520401.1:c.230+11894_230+11896dup
NM_000038.5:c.5272_5274dup	NP_000029.2:p.Ser1758_Ala1759insSer
NM_001127510.2:c.5272_5274dup	NP_001120982.1:p.Ser1758_Ala1759insSer
NM_001127511.2:c.5218_5220dup	NP_001120983.2:p.Ser1740_Ala1741insSer
NM_001354895.1:c.5272_5274dup	NP_001341824.1:p.Ser1758_Ala1759insSer
NM_001354896.1:c.5326_5328dup	NP_001341825.1:p.Ser1776_Ala1777insSer
NM_001354897.1:c.5302_5304dup	NP_001341826.1:p.Ser1768_Ala1769insSer
NM_001354898.1:c.5197_5199dup	NP_001341827.1:p.Ser1733_Ala1734insSer
NM_001354899.1:c.5188_5190dup	NP_001341828.1:p.Ser1730_Ala1731insSer
NM_001354900.1:c.5149_5151dup	NP_001341829.1:p.Ser1717_Ala1718insSer
NM_001354901.1:c.5095_5097dup	NP_001341830.1:p.Ser1699_Ala1700insSer
NM_001354902.1:c.4999_5001dup	NP_001341831.1:p.Ser1667_Ala1668insSer
NM_001354903.1:c.4969_4971dup	NP_001341832.1:p.Ser1657_Ala1658insSer
NM_001354904.1:c.4894_4896dup	NP_001341833.1:p.Ser1632_Ala1633insSer
NM_001354905.1:c.4792_4794dup	NP_001341834.1:p.Ser1598_Ala1599insSer
NM_001354906.1:c.4423_4425dup	NP_001341835.1:p.Ser1475_Ala1476insSer
NM_000038.6:c.5272_5274dup MANE Select	NP_000029.2:p.Ser1758_Ala1759insSer
NM_001127510.3:c.5272_5274dup	NP_001120982.1:p.Ser1758_Ala1759insSer
NM_001127511.3:c.5218_5220dup	NP_001120983.2:p.Ser1740_Ala1741insSer
NM_001354895.2:c.5272_5274dup	NP_001341824.1:p.Ser1758_Ala1759insSer
NM_001354896.2:c.5326_5328dup	NP_001341825.1:p.Ser1776_Ala1777insSer
NM_001354897.2:c.5302_5304dup	NP_001341826.1:p.Ser1768_Ala1769insSer
NM_001354898.2:c.5197_5199dup	NP_001341827.1:p.Ser1733_Ala1734insSer
NM_001354899.2:c.5188_5190dup	NP_001341828.1:p.Ser1730_Ala1731insSer
NM_001354900.2:c.5149_5151dup	NP_001341829.1:p.Ser1717_Ala1718insSer
NM_001354901.2:c.5095_5097dup	NP_001341830.1:p.Ser1699_Ala1700insSer
NM_001354902.2:c.4999_5001dup	NP_001341831.1:p.Ser1667_Ala1668insSer
NM_001354903.2:c.4969_4971dup	NP_001341832.1:p.Ser1657_Ala1658insSer
NM_001354904.2:c.4894_4896dup	NP_001341833.1:p.Ser1632_Ala1633insSer
NM_001354905.2:c.4792_4794dup	NP_001341834.1:p.Ser1598_Ala1599insSer
NM_001354906.2:c.4423_4425dup	NP_001341835.1:p.Ser1475_Ala1476insSer