Canonical Allele Identifier: CA2580072618
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2027006

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112840727del , CM000667.2:g.112840727del GRCh38
NC_000005.9:g.112176424del , CM000667.1:g.112176424del GRCh37
NC_000005.8:g.112204323del NCBI36
NG_008481.4:g.153207del , LRG_130:g.153207del

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.5187del ENSP00000473355.2:p.Glu1730AsnfsTer?
ENST00000505350.2:c.*5139del ENSP00000481752.1:n.*5139del
ENST00000507379.6:c.5079del ENSP00000423224.2:p.Glu1694AsnfsTer?
ENST00000509732.6:c.5133del ENSP00000426541.2:p.Glu1712AsnfsTer?
ENST00000512211.7:c.5133del ENSP00000423828.3:p.Glu1712AsnfsTer?
ENST00000257430.9:c.5133del MANE Select ENSP00000257430.4:p.Glu1712AsnfsTer?
ENST00000257430.8:c.5133del ENSP00000257430.4:p.Glu1712AsnfsTer?
ENST00000508376.6:c.5133del ENSP00000427089.2:p.Glu1712AsnfsTer?
ENST00000508624.5:c.*4455del ENSP00000424265.1:n.*4455del
ENST00000520401.1:c.230+11755del
NM_000038.5:c.5133del NP_000029.2:p.Glu1712AsnfsTer?
NM_001127510.2:c.5133del NP_001120982.1:p.Glu1712AsnfsTer?
NM_001127511.2:c.5079del NP_001120983.2:p.Glu1694AsnfsTer?
NM_001354895.1:c.5133del NP_001341824.1:p.Glu1712AsnfsTer?
NM_001354896.1:c.5187del NP_001341825.1:p.Glu1730AsnfsTer?
NM_001354897.1:c.5163del NP_001341826.1:p.Glu1722AsnfsTer?
NM_001354898.1:c.5058del NP_001341827.1:p.Glu1687AsnfsTer?
NM_001354899.1:c.5049del NP_001341828.1:p.Glu1684AsnfsTer?
NM_001354900.1:c.5010del NP_001341829.1:p.Glu1671AsnfsTer?
NM_001354901.1:c.4956del NP_001341830.1:p.Glu1653AsnfsTer?
NM_001354902.1:c.4860del NP_001341831.1:p.Glu1621AsnfsTer?
NM_001354903.1:c.4830del NP_001341832.1:p.Glu1611AsnfsTer?
NM_001354904.1:c.4755del NP_001341833.1:p.Glu1586AsnfsTer?
NM_001354905.1:c.4653del NP_001341834.1:p.Glu1552AsnfsTer?
NM_001354906.1:c.4284del NP_001341835.1:p.Glu1429AsnfsTer?
NM_000038.6:c.5133del MANE Select NP_000029.2:p.Glu1712AsnfsTer?
NM_001127510.3:c.5133del NP_001120982.1:p.Glu1712AsnfsTer?
NM_001127511.3:c.5079del NP_001120983.2:p.Glu1694AsnfsTer?
NM_001354895.2:c.5133del NP_001341824.1:p.Glu1712AsnfsTer?
NM_001354896.2:c.5187del NP_001341825.1:p.Glu1730AsnfsTer?
NM_001354897.2:c.5163del NP_001341826.1:p.Glu1722AsnfsTer?
NM_001354898.2:c.5058del NP_001341827.1:p.Glu1687AsnfsTer?
NM_001354899.2:c.5049del NP_001341828.1:p.Glu1684AsnfsTer?
NM_001354900.2:c.5010del NP_001341829.1:p.Glu1671AsnfsTer?
NM_001354901.2:c.4956del NP_001341830.1:p.Glu1653AsnfsTer?
NM_001354902.2:c.4860del NP_001341831.1:p.Glu1621AsnfsTer?
NM_001354903.2:c.4830del NP_001341832.1:p.Glu1611AsnfsTer?
NM_001354904.2:c.4755del NP_001341833.1:p.Glu1586AsnfsTer?
NM_001354905.2:c.4653del NP_001341834.1:p.Glu1552AsnfsTer?
NM_001354906.2:c.4284del NP_001341835.1:p.Glu1429AsnfsTer?