Canonical Allele Identifier: CA2573138680
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 1367761
ClinVar RCV Id: RCV003336453
dbSNP Id: rs2149996933

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112843549del , CM000667.2:g.112843549del GRCh38
NC_000005.9:g.112179246del , CM000667.1:g.112179246del GRCh37
NC_000005.8:g.112207145del NCBI36
NG_008481.4:g.156029del , LRG_130:g.156029del

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.8009del ENSP00000473355.2:p.Ser2670LeufsTer8
ENST00000505350.2:c.*7961del ENSP00000481752.1:n.*7961del
ENST00000507379.6:c.7901del ENSP00000423224.2:p.Ser2634LeufsTer8
ENST00000509732.6:c.7955del ENSP00000426541.2:p.Ser2652LeufsTer8
ENST00000512211.7:c.7955del ENSP00000423828.3:p.Ser2652LeufsTer8
ENST00000257430.9:c.7955del MANE Select ENSP00000257430.4:p.Ser2652LeufsTer8
ENST00000257430.8:c.7955del ENSP00000257430.4:p.Ser2652LeufsTer8
ENST00000508376.6:c.7955del ENSP00000427089.2:p.Ser2652LeufsTer8
ENST00000520401.1:c.231-13100del
NM_000038.5:c.7955del NP_000029.2:p.Ser2652LeufsTer8
NM_001127510.2:c.7955del NP_001120982.1:p.Ser2652LeufsTer8
NM_001127511.2:c.7901del NP_001120983.2:p.Ser2634LeufsTer8
NM_001354895.1:c.7955del NP_001341824.1:p.Ser2652LeufsTer8
NM_001354896.1:c.8009del NP_001341825.1:p.Ser2670LeufsTer8
NM_001354897.1:c.7985del NP_001341826.1:p.Ser2662LeufsTer8
NM_001354898.1:c.7880del NP_001341827.1:p.Ser2627LeufsTer8
NM_001354899.1:c.7871del NP_001341828.1:p.Ser2624LeufsTer8
NM_001354900.1:c.7832del NP_001341829.1:p.Ser2611LeufsTer8
NM_001354901.1:c.7778del NP_001341830.1:p.Ser2593LeufsTer8
NM_001354902.1:c.7682del NP_001341831.1:p.Ser2561LeufsTer8
NM_001354903.1:c.7652del NP_001341832.1:p.Ser2551LeufsTer8
NM_001354904.1:c.7577del NP_001341833.1:p.Ser2526LeufsTer8
NM_001354905.1:c.7475del NP_001341834.1:p.Ser2492LeufsTer8
NM_001354906.1:c.7106del NP_001341835.1:p.Ser2369LeufsTer8
NM_000038.6:c.7955del MANE Select NP_000029.2:p.Ser2652LeufsTer8
NM_001127510.3:c.7955del NP_001120982.1:p.Ser2652LeufsTer8
NM_001127511.3:c.7901del NP_001120983.2:p.Ser2634LeufsTer8
NM_001354895.2:c.7955del NP_001341824.1:p.Ser2652LeufsTer8
NM_001354896.2:c.8009del NP_001341825.1:p.Ser2670LeufsTer8
NM_001354897.2:c.7985del NP_001341826.1:p.Ser2662LeufsTer8
NM_001354898.2:c.7880del NP_001341827.1:p.Ser2627LeufsTer8
NM_001354899.2:c.7871del NP_001341828.1:p.Ser2624LeufsTer8
NM_001354900.2:c.7832del NP_001341829.1:p.Ser2611LeufsTer8
NM_001354901.2:c.7778del NP_001341830.1:p.Ser2593LeufsTer8
NM_001354902.2:c.7682del NP_001341831.1:p.Ser2561LeufsTer8
NM_001354903.2:c.7652del NP_001341832.1:p.Ser2551LeufsTer8
NM_001354904.2:c.7577del NP_001341833.1:p.Ser2526LeufsTer8
NM_001354905.2:c.7475del NP_001341834.1:p.Ser2492LeufsTer8
NM_001354906.2:c.7106del NP_001341835.1:p.Ser2369LeufsTer8