Canonical Allele Identifier: CA645372798

Gene: APC

Linked Data

• ClinVar Variation Id: 433667
• ClinVar RCV Id: RCV000501182 ; RCV003337302
• dbSNP Id: rs1554086138
• MyVariant Identifiers: chr5:g.112176026_112176027del (hg19) ; chr5:g.112840329_112840330del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840329_112840330del , CM000667.2:g.112840329_112840330del	GRCh38
NC_000005.9:g.112176026_112176027del , CM000667.1:g.112176026_112176027del	GRCh37
NC_000005.8:g.112203925_112203926del	NCBI36
NG_008481.4:g.152809_152810del , LRG_130:g.152809_152810del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4789_4790del	ENSP00000473355.2:p.Ile1597TyrfsTer11
ENST00000505350.2:c.*4741_*4742del	ENSP00000481752.1:n.*4741_*4742del
ENST00000507379.6:c.4681_4682del	ENSP00000423224.2:p.Ile1561TyrfsTer11
ENST00000509732.6:c.4735_4736del	ENSP00000426541.2:p.Ile1579TyrfsTer11
ENST00000512211.7:c.4735_4736del	ENSP00000423828.3:p.Ile1579TyrfsTer11
ENST00000257430.9:c.4735_4736del MANE Select	ENSP00000257430.4:p.Ile1579TyrfsTer11
ENST00000257430.8:c.4735_4736del	ENSP00000257430.4:p.Ile1579TyrfsTer11
ENST00000508376.6:c.4735_4736del	ENSP00000427089.2:p.Ile1579TyrfsTer11
ENST00000508624.5:c.*4057_*4058del	ENSP00000424265.1:n.*4057_*4058del
ENST00000520401.1:c.230+11357_230+11358del
NM_000038.5:c.4735_4736del	NP_000029.2:p.Ile1579TyrfsTer11
NM_001127510.2:c.4735_4736del	NP_001120982.1:p.Ile1579TyrfsTer11
NM_001127511.2:c.4681_4682del	NP_001120983.2:p.Ile1561TyrfsTer11
NM_001354895.1:c.4735_4736del	NP_001341824.1:p.Ile1579TyrfsTer11
NM_001354896.1:c.4789_4790del	NP_001341825.1:p.Ile1597TyrfsTer11
NM_001354897.1:c.4765_4766del	NP_001341826.1:p.Ile1589TyrfsTer11
NM_001354898.1:c.4660_4661del	NP_001341827.1:p.Ile1554TyrfsTer11
NM_001354899.1:c.4651_4652del	NP_001341828.1:p.Ile1551TyrfsTer11
NM_001354900.1:c.4612_4613del	NP_001341829.1:p.Ile1538TyrfsTer11
NM_001354901.1:c.4558_4559del	NP_001341830.1:p.Ile1520TyrfsTer11
NM_001354902.1:c.4462_4463del	NP_001341831.1:p.Ile1488TyrfsTer11
NM_001354903.1:c.4432_4433del	NP_001341832.1:p.Ile1478TyrfsTer11
NM_001354904.1:c.4357_4358del	NP_001341833.1:p.Ile1453TyrfsTer11
NM_001354905.1:c.4255_4256del	NP_001341834.1:p.Ile1419TyrfsTer11
NM_001354906.1:c.3886_3887del	NP_001341835.1:p.Ile1296TyrfsTer11
NM_000038.6:c.4735_4736del MANE Select	NP_000029.2:p.Ile1579TyrfsTer11
NM_001127510.3:c.4735_4736del	NP_001120982.1:p.Ile1579TyrfsTer11
NM_001127511.3:c.4681_4682del	NP_001120983.2:p.Ile1561TyrfsTer11
NM_001354895.2:c.4735_4736del	NP_001341824.1:p.Ile1579TyrfsTer11
NM_001354896.2:c.4789_4790del	NP_001341825.1:p.Ile1597TyrfsTer11
NM_001354897.2:c.4765_4766del	NP_001341826.1:p.Ile1589TyrfsTer11
NM_001354898.2:c.4660_4661del	NP_001341827.1:p.Ile1554TyrfsTer11
NM_001354899.2:c.4651_4652del	NP_001341828.1:p.Ile1551TyrfsTer11
NM_001354900.2:c.4612_4613del	NP_001341829.1:p.Ile1538TyrfsTer11
NM_001354901.2:c.4558_4559del	NP_001341830.1:p.Ile1520TyrfsTer11
NM_001354902.2:c.4462_4463del	NP_001341831.1:p.Ile1488TyrfsTer11
NM_001354903.2:c.4432_4433del	NP_001341832.1:p.Ile1478TyrfsTer11
NM_001354904.2:c.4357_4358del	NP_001341833.1:p.Ile1453TyrfsTer11
NM_001354905.2:c.4255_4256del	NP_001341834.1:p.Ile1419TyrfsTer11
NM_001354906.2:c.3886_3887del	NP_001341835.1:p.Ile1296TyrfsTer11