Canonical Allele Identifier: CA2697546374
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2754124
ClinVar RCV Id: RCV003536802

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112841574del , CM000667.2:g.112841574del GRCh38
NC_000005.9:g.112177271del , CM000667.1:g.112177271del GRCh37
NC_000005.8:g.112205170del NCBI36
NG_008481.4:g.154054del , LRG_130:g.154054del

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.6034del ENSP00000473355.2:p.Asp2012ThrfsTer?
ENST00000505350.2:c.*5986del ENSP00000481752.1:n.*5986del
ENST00000507379.6:c.5926del ENSP00000423224.2:p.Asp1976ThrfsTer?
ENST00000509732.6:c.5980del ENSP00000426541.2:p.Asp1994ThrfsTer?
ENST00000512211.7:c.5980del ENSP00000423828.3:p.Asp1994ThrfsTer?
ENST00000257430.9:c.5980del MANE Select ENSP00000257430.4:p.Asp1994ThrfsTer?
ENST00000257430.8:c.5980del ENSP00000257430.4:p.Asp1994ThrfsTer?
ENST00000508376.6:c.5980del ENSP00000427089.2:p.Asp1994ThrfsTer?
ENST00000508624.5:c.*5302del ENSP00000424265.1:n.*5302del
ENST00000520401.1:c.230+12602del
NM_000038.5:c.5980del NP_000029.2:p.Asp1994ThrfsTer?
NM_001127510.2:c.5980del NP_001120982.1:p.Asp1994ThrfsTer?
NM_001127511.2:c.5926del NP_001120983.2:p.Asp1976ThrfsTer?
NM_001354895.1:c.5980del NP_001341824.1:p.Asp1994ThrfsTer?
NM_001354896.1:c.6034del NP_001341825.1:p.Asp2012ThrfsTer?
NM_001354897.1:c.6010del NP_001341826.1:p.Asp2004ThrfsTer?
NM_001354898.1:c.5905del NP_001341827.1:p.Asp1969ThrfsTer?
NM_001354899.1:c.5896del NP_001341828.1:p.Asp1966ThrfsTer?
NM_001354900.1:c.5857del NP_001341829.1:p.Asp1953ThrfsTer?
NM_001354901.1:c.5803del NP_001341830.1:p.Asp1935ThrfsTer?
NM_001354902.1:c.5707del NP_001341831.1:p.Asp1903ThrfsTer?
NM_001354903.1:c.5677del NP_001341832.1:p.Asp1893ThrfsTer?
NM_001354904.1:c.5602del NP_001341833.1:p.Asp1868ThrfsTer?
NM_001354905.1:c.5500del NP_001341834.1:p.Asp1834ThrfsTer?
NM_001354906.1:c.5131del NP_001341835.1:p.Asp1711ThrfsTer?
NM_000038.6:c.5980del MANE Select NP_000029.2:p.Asp1994ThrfsTer?
NM_001127510.3:c.5980del NP_001120982.1:p.Asp1994ThrfsTer?
NM_001127511.3:c.5926del NP_001120983.2:p.Asp1976ThrfsTer?
NM_001354895.2:c.5980del NP_001341824.1:p.Asp1994ThrfsTer?
NM_001354896.2:c.6034del NP_001341825.1:p.Asp2012ThrfsTer?
NM_001354897.2:c.6010del NP_001341826.1:p.Asp2004ThrfsTer?
NM_001354898.2:c.5905del NP_001341827.1:p.Asp1969ThrfsTer?
NM_001354899.2:c.5896del NP_001341828.1:p.Asp1966ThrfsTer?
NM_001354900.2:c.5857del NP_001341829.1:p.Asp1953ThrfsTer?
NM_001354901.2:c.5803del NP_001341830.1:p.Asp1935ThrfsTer?
NM_001354902.2:c.5707del NP_001341831.1:p.Asp1903ThrfsTer?
NM_001354903.2:c.5677del NP_001341832.1:p.Asp1893ThrfsTer?
NM_001354904.2:c.5602del NP_001341833.1:p.Asp1868ThrfsTer?
NM_001354905.2:c.5500del NP_001341834.1:p.Asp1834ThrfsTer?
NM_001354906.2:c.5131del NP_001341835.1:p.Asp1711ThrfsTer?