Canonical Allele Identifier: CA645562817

Gene: APC

Linked Data

• ClinVar Variation Id: 987441
• ClinVar RCV Id: RCV001268810 ; RCV003337362
• dbSNP Id: rs1764719091
• COSMIC: COSM19570 ; COSM51546
• PubMed: PMID:8187091 ; PMID:11247896 ; PMID:20223039

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835070_112835073del , CM000667.2:g.112835070_112835073del	GRCh38
NC_000005.9:g.112170767_112170770del , CM000667.1:g.112170767_112170770del	GRCh37
NC_000005.8:g.112198666_112198669del	NCBI36
NG_008481.4:g.147550_147553del , LRG_130:g.147550_147553del

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1528_1531del	ENSP00000484935.2:n.1528_1531del
ENST00000504915.3:c.1917_1920del	ENSP00000473355.2:p.Tyr640GlyfsTer7
ENST00000505350.2:c.*1869_*1872del	ENSP00000481752.1:n.*1869_*1872del
ENST00000507379.6:c.1809_1812del	ENSP00000423224.2:p.Tyr604GlyfsTer7
ENST00000509732.6:c.1863_1866del	ENSP00000426541.2:p.Tyr622GlyfsTer7
ENST00000512211.7:c.1863_1866del	ENSP00000423828.3:p.Tyr622GlyfsTer7
ENST00000257430.9:c.1863_1866del MANE Select	ENSP00000257430.4:p.Tyr622GlyfsTer7
ENST00000257430.8:c.1863_1866del	ENSP00000257430.4:p.Tyr622GlyfsTer7
ENST00000502371.2:c.216_219del
ENST00000504915.2:c.552_555del	ENSP00000473355.1:p.Tyr185GlyfsTer7
ENST00000507379.5:c.1809_1812del	ENSP00000423224.1:p.Tyr604GlyfsTer7
ENST00000508376.6:c.1863_1866del	ENSP00000427089.2:p.Tyr622GlyfsTer7
ENST00000508624.5:c.*1185_*1188del	ENSP00000424265.1:n.*1185_*1188del
ENST00000512211.6:c.1863_1866del	ENSP00000423828.2:p.Tyr622GlyfsTer7
ENST00000520401.1:c.230+6098_230+6101del
NM_000038.5:c.1863_1866del	NP_000029.2:p.Tyr622GlyfsTer7
NM_001127510.2:c.1863_1866del	NP_001120982.1:p.Tyr622GlyfsTer7
NM_001127511.2:c.1809_1812del	NP_001120983.2:p.Tyr604GlyfsTer7
NM_001354895.1:c.1863_1866del	NP_001341824.1:p.Tyr622GlyfsTer7
NM_001354896.1:c.1917_1920del	NP_001341825.1:p.Tyr640GlyfsTer7
NM_001354897.1:c.1893_1896del	NP_001341826.1:p.Tyr632GlyfsTer7
NM_001354898.1:c.1788_1791del	NP_001341827.1:p.Tyr597GlyfsTer7
NM_001354899.1:c.1779_1782del	NP_001341828.1:p.Tyr594GlyfsTer7
NM_001354900.1:c.1740_1743del	NP_001341829.1:p.Tyr581GlyfsTer7
NM_001354901.1:c.1686_1689del	NP_001341830.1:p.Tyr563GlyfsTer7
NM_001354902.1:c.1590_1593del	NP_001341831.1:p.Tyr531GlyfsTer7
NM_001354903.1:c.1560_1563del	NP_001341832.1:p.Tyr521GlyfsTer7
NM_001354904.1:c.1485_1488del	NP_001341833.1:p.Tyr496GlyfsTer7
NM_001354905.1:c.1383_1386del	NP_001341834.1:p.Tyr462GlyfsTer7
NM_001354906.1:c.1014_1017del	NP_001341835.1:p.Tyr339GlyfsTer7
NM_000038.6:c.1863_1866del MANE Select	NP_000029.2:p.Tyr622GlyfsTer7
NM_001127510.3:c.1863_1866del	NP_001120982.1:p.Tyr622GlyfsTer7
NM_001127511.3:c.1809_1812del	NP_001120983.2:p.Tyr604GlyfsTer7
NM_001354895.2:c.1863_1866del	NP_001341824.1:p.Tyr622GlyfsTer7
NM_001354896.2:c.1917_1920del	NP_001341825.1:p.Tyr640GlyfsTer7
NM_001354897.2:c.1893_1896del	NP_001341826.1:p.Tyr632GlyfsTer7
NM_001354898.2:c.1788_1791del	NP_001341827.1:p.Tyr597GlyfsTer7
NM_001354899.2:c.1779_1782del	NP_001341828.1:p.Tyr594GlyfsTer7
NM_001354900.2:c.1740_1743del	NP_001341829.1:p.Tyr581GlyfsTer7
NM_001354901.2:c.1686_1689del	NP_001341830.1:p.Tyr563GlyfsTer7
NM_001354902.2:c.1590_1593del	NP_001341831.1:p.Tyr531GlyfsTer7
NM_001354903.2:c.1560_1563del	NP_001341832.1:p.Tyr521GlyfsTer7
NM_001354904.2:c.1485_1488del	NP_001341833.1:p.Tyr496GlyfsTer7
NM_001354905.2:c.1383_1386del	NP_001341834.1:p.Tyr462GlyfsTer7
NM_001354906.2:c.1014_1017del	NP_001341835.1:p.Tyr339GlyfsTer7