Canonical Allele Identifier: CA2582341639
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2583211
ClinVar RCV Id: RCV003337429

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112843619del , CM000667.2:g.112843619del GRCh38
NC_000005.9:g.112179316del , CM000667.1:g.112179316del GRCh37
NC_000005.8:g.112207215del NCBI36
NG_008481.4:g.156099del , LRG_130:g.156099del

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.8079del ENSP00000473355.2:p.Thr2694GlnfsTer7
ENST00000505350.2:c.*8031del ENSP00000481752.1:n.*8031del
ENST00000507379.6:c.7971del ENSP00000423224.2:p.Thr2658GlnfsTer7
ENST00000509732.6:c.8025del ENSP00000426541.2:p.Thr2676GlnfsTer7
ENST00000512211.7:c.8025del ENSP00000423828.3:p.Thr2676GlnfsTer7
ENST00000257430.9:c.8025del MANE Select ENSP00000257430.4:p.Thr2676GlnfsTer7
ENST00000257430.8:c.8025del ENSP00000257430.4:p.Thr2676GlnfsTer7
ENST00000508376.6:c.8025del ENSP00000427089.2:p.Thr2676GlnfsTer7
ENST00000520401.1:c.231-13030del
NM_000038.5:c.8025del NP_000029.2:p.Thr2676GlnfsTer7
NM_001127510.2:c.8025del NP_001120982.1:p.Thr2676GlnfsTer7
NM_001127511.2:c.7971del NP_001120983.2:p.Thr2658GlnfsTer7
NM_001354895.1:c.8025del NP_001341824.1:p.Thr2676GlnfsTer7
NM_001354896.1:c.8079del NP_001341825.1:p.Thr2694GlnfsTer7
NM_001354897.1:c.8055del NP_001341826.1:p.Thr2686GlnfsTer7
NM_001354898.1:c.7950del NP_001341827.1:p.Thr2651GlnfsTer7
NM_001354899.1:c.7941del NP_001341828.1:p.Thr2648GlnfsTer7
NM_001354900.1:c.7902del NP_001341829.1:p.Thr2635GlnfsTer7
NM_001354901.1:c.7848del NP_001341830.1:p.Thr2617GlnfsTer7
NM_001354902.1:c.7752del NP_001341831.1:p.Thr2585GlnfsTer7
NM_001354903.1:c.7722del NP_001341832.1:p.Thr2575GlnfsTer7
NM_001354904.1:c.7647del NP_001341833.1:p.Thr2550GlnfsTer7
NM_001354905.1:c.7545del NP_001341834.1:p.Thr2516GlnfsTer7
NM_001354906.1:c.7176del NP_001341835.1:p.Thr2393GlnfsTer7
NM_000038.6:c.8025del MANE Select NP_000029.2:p.Thr2676GlnfsTer7
NM_001127510.3:c.8025del NP_001120982.1:p.Thr2676GlnfsTer7
NM_001127511.3:c.7971del NP_001120983.2:p.Thr2658GlnfsTer7
NM_001354895.2:c.8025del NP_001341824.1:p.Thr2676GlnfsTer7
NM_001354896.2:c.8079del NP_001341825.1:p.Thr2694GlnfsTer7
NM_001354897.2:c.8055del NP_001341826.1:p.Thr2686GlnfsTer7
NM_001354898.2:c.7950del NP_001341827.1:p.Thr2651GlnfsTer7
NM_001354899.2:c.7941del NP_001341828.1:p.Thr2648GlnfsTer7
NM_001354900.2:c.7902del NP_001341829.1:p.Thr2635GlnfsTer7
NM_001354901.2:c.7848del NP_001341830.1:p.Thr2617GlnfsTer7
NM_001354902.2:c.7752del NP_001341831.1:p.Thr2585GlnfsTer7
NM_001354903.2:c.7722del NP_001341832.1:p.Thr2575GlnfsTer7
NM_001354904.2:c.7647del NP_001341833.1:p.Thr2550GlnfsTer7
NM_001354905.2:c.7545del NP_001341834.1:p.Thr2516GlnfsTer7
NM_001354906.2:c.7176del NP_001341835.1:p.Thr2393GlnfsTer7