Canonical Allele Identifier: CA658760603

Gene: APC

Linked Data

• ClinVar Variation Id: 2584086
• ClinVar RCV Id: RCV003335534
• PubMed: PMID:19029688

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835080del , CM000667.2:g.112835080del	GRCh38
NC_000005.9:g.112170777del , CM000667.1:g.112170777del	GRCh37
NC_000005.8:g.112198676del	NCBI36
NG_008481.4:g.147560del , LRG_130:g.147560del

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1538del	ENSP00000484935.2:n.1538del
ENST00000504915.3:c.1927del	ENSP00000473355.2:p.Gln643ArgfsTer5
ENST00000505350.2:c.*1879del	ENSP00000481752.1:n.*1879del
ENST00000507379.6:c.1819del	ENSP00000423224.2:p.Gln607ArgfsTer5
ENST00000509732.6:c.1873del	ENSP00000426541.2:p.Gln625ArgfsTer5
ENST00000512211.7:c.1873del	ENSP00000423828.3:p.Gln625ArgfsTer5
ENST00000257430.9:c.1873del MANE Select	ENSP00000257430.4:p.Gln625ArgfsTer5
ENST00000257430.8:c.1873del	ENSP00000257430.4:p.Gln625ArgfsTer5
ENST00000502371.2:c.226del
ENST00000504915.2:c.562del	ENSP00000473355.1:p.Gln188ArgfsTer5
ENST00000507379.5:c.1819del	ENSP00000423224.1:p.Gln607ArgfsTer5
ENST00000508376.6:c.1873del	ENSP00000427089.2:p.Gln625ArgfsTer5
ENST00000508624.5:c.*1195del	ENSP00000424265.1:n.*1195del
ENST00000512211.6:c.1873del	ENSP00000423828.2:p.Gln625ArgfsTer5
ENST00000520401.1:c.230+6108del
NM_000038.5:c.1873del	NP_000029.2:p.Gln625ArgfsTer5
NM_001127510.2:c.1873del	NP_001120982.1:p.Gln625ArgfsTer5
NM_001127511.2:c.1819del	NP_001120983.2:p.Gln607ArgfsTer5
NM_001354895.1:c.1873del	NP_001341824.1:p.Gln625ArgfsTer5
NM_001354896.1:c.1927del	NP_001341825.1:p.Gln643ArgfsTer5
NM_001354897.1:c.1903del	NP_001341826.1:p.Gln635ArgfsTer5
NM_001354898.1:c.1798del	NP_001341827.1:p.Gln600ArgfsTer5
NM_001354899.1:c.1789del	NP_001341828.1:p.Gln597ArgfsTer5
NM_001354900.1:c.1750del	NP_001341829.1:p.Gln584ArgfsTer5
NM_001354901.1:c.1696del	NP_001341830.1:p.Gln566ArgfsTer5
NM_001354902.1:c.1600del	NP_001341831.1:p.Gln534ArgfsTer5
NM_001354903.1:c.1570del	NP_001341832.1:p.Gln524ArgfsTer5
NM_001354904.1:c.1495del	NP_001341833.1:p.Gln499ArgfsTer5
NM_001354905.1:c.1393del	NP_001341834.1:p.Gln465ArgfsTer5
NM_001354906.1:c.1024del	NP_001341835.1:p.Gln342ArgfsTer5
NM_000038.6:c.1873del MANE Select	NP_000029.2:p.Gln625ArgfsTer5
NM_001127510.3:c.1873del	NP_001120982.1:p.Gln625ArgfsTer5
NM_001127511.3:c.1819del	NP_001120983.2:p.Gln607ArgfsTer5
NM_001354895.2:c.1873del	NP_001341824.1:p.Gln625ArgfsTer5
NM_001354896.2:c.1927del	NP_001341825.1:p.Gln643ArgfsTer5
NM_001354897.2:c.1903del	NP_001341826.1:p.Gln635ArgfsTer5
NM_001354898.2:c.1798del	NP_001341827.1:p.Gln600ArgfsTer5
NM_001354899.2:c.1789del	NP_001341828.1:p.Gln597ArgfsTer5
NM_001354900.2:c.1750del	NP_001341829.1:p.Gln584ArgfsTer5
NM_001354901.2:c.1696del	NP_001341830.1:p.Gln566ArgfsTer5
NM_001354902.2:c.1600del	NP_001341831.1:p.Gln534ArgfsTer5
NM_001354903.2:c.1570del	NP_001341832.1:p.Gln524ArgfsTer5
NM_001354904.2:c.1495del	NP_001341833.1:p.Gln499ArgfsTer5
NM_001354905.2:c.1393del	NP_001341834.1:p.Gln465ArgfsTer5
NM_001354906.2:c.1024del	NP_001341835.1:p.Gln342ArgfsTer5