Canonical Allele Identifier: CA2580072603
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2198057
ClinVar RCV Id: RCV003336805

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112840573_112840576dup , CM000667.2:g.112840573_112840576dup GRCh38
NC_000005.9:g.112176270_112176273dup , CM000667.1:g.112176270_112176273dup GRCh37
NC_000005.8:g.112204169_112204172dup NCBI36
NG_008481.4:g.153053_153056dup , LRG_130:g.153053_153056dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.5033_5036dup ENSP00000473355.2:p.Ile1680AsnfsTer8
ENST00000505350.2:c.*4985_*4988dup ENSP00000481752.1:n.*4985_*4988dup
ENST00000507379.6:c.4925_4928dup ENSP00000423224.2:p.Ile1644AsnfsTer8
ENST00000509732.6:c.4979_4982dup ENSP00000426541.2:p.Ile1662AsnfsTer8
ENST00000512211.7:c.4979_4982dup ENSP00000423828.3:p.Ile1662AsnfsTer8
ENST00000257430.9:c.4979_4982dup MANE Select ENSP00000257430.4:p.Ile1662AsnfsTer8
ENST00000257430.8:c.4979_4982dup ENSP00000257430.4:p.Ile1662AsnfsTer8
ENST00000508376.6:c.4979_4982dup ENSP00000427089.2:p.Ile1662AsnfsTer8
ENST00000508624.5:c.*4301_*4304dup ENSP00000424265.1:n.*4301_*4304dup
ENST00000520401.1:c.230+11601_230+11604dup
NM_000038.5:c.4979_4982dup NP_000029.2:p.Ile1662AsnfsTer8
NM_001127510.2:c.4979_4982dup NP_001120982.1:p.Ile1662AsnfsTer8
NM_001127511.2:c.4925_4928dup NP_001120983.2:p.Ile1644AsnfsTer8
NM_001354895.1:c.4979_4982dup NP_001341824.1:p.Ile1662AsnfsTer8
NM_001354896.1:c.5033_5036dup NP_001341825.1:p.Ile1680AsnfsTer8
NM_001354897.1:c.5009_5012dup NP_001341826.1:p.Ile1672AsnfsTer8
NM_001354898.1:c.4904_4907dup NP_001341827.1:p.Ile1637AsnfsTer8
NM_001354899.1:c.4895_4898dup NP_001341828.1:p.Ile1634AsnfsTer8
NM_001354900.1:c.4856_4859dup NP_001341829.1:p.Ile1621AsnfsTer8
NM_001354901.1:c.4802_4805dup NP_001341830.1:p.Ile1603AsnfsTer8
NM_001354902.1:c.4706_4709dup NP_001341831.1:p.Ile1571AsnfsTer8
NM_001354903.1:c.4676_4679dup NP_001341832.1:p.Ile1561AsnfsTer8
NM_001354904.1:c.4601_4604dup NP_001341833.1:p.Ile1536AsnfsTer8
NM_001354905.1:c.4499_4502dup NP_001341834.1:p.Ile1502AsnfsTer8
NM_001354906.1:c.4130_4133dup NP_001341835.1:p.Ile1379AsnfsTer8
NM_000038.6:c.4979_4982dup MANE Select NP_000029.2:p.Ile1662AsnfsTer8
NM_001127510.3:c.4979_4982dup NP_001120982.1:p.Ile1662AsnfsTer8
NM_001127511.3:c.4925_4928dup NP_001120983.2:p.Ile1644AsnfsTer8
NM_001354895.2:c.4979_4982dup NP_001341824.1:p.Ile1662AsnfsTer8
NM_001354896.2:c.5033_5036dup NP_001341825.1:p.Ile1680AsnfsTer8
NM_001354897.2:c.5009_5012dup NP_001341826.1:p.Ile1672AsnfsTer8
NM_001354898.2:c.4904_4907dup NP_001341827.1:p.Ile1637AsnfsTer8
NM_001354899.2:c.4895_4898dup NP_001341828.1:p.Ile1634AsnfsTer8
NM_001354900.2:c.4856_4859dup NP_001341829.1:p.Ile1621AsnfsTer8
NM_001354901.2:c.4802_4805dup NP_001341830.1:p.Ile1603AsnfsTer8
NM_001354902.2:c.4706_4709dup NP_001341831.1:p.Ile1571AsnfsTer8
NM_001354903.2:c.4676_4679dup NP_001341832.1:p.Ile1561AsnfsTer8
NM_001354904.2:c.4601_4604dup NP_001341833.1:p.Ile1536AsnfsTer8
NM_001354905.2:c.4499_4502dup NP_001341834.1:p.Ile1502AsnfsTer8
NM_001354906.2:c.4130_4133dup NP_001341835.1:p.Ile1379AsnfsTer8