Canonical Allele Identifier: CA2582341631
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2583678
ClinVar RCV Id: RCV003337496

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112843257_112843260del , CM000667.2:g.112843257_112843260del GRCh38
NC_000005.9:g.112178954_112178957del , CM000667.1:g.112178954_112178957del GRCh37
NC_000005.8:g.112206853_112206856del NCBI36
NG_008481.4:g.155737_155740del , LRG_130:g.155737_155740del

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.7717_7720del ENSP00000473355.2:p.Ser2573HisfsTer6
ENST00000505350.2:c.*7669_*7672del ENSP00000481752.1:n.*7669_*7672del
ENST00000507379.6:c.7609_7612del ENSP00000423224.2:p.Ser2537HisfsTer6
ENST00000509732.6:c.7663_7666del ENSP00000426541.2:p.Ser2555HisfsTer6
ENST00000512211.7:c.7663_7666del ENSP00000423828.3:p.Ser2555HisfsTer6
ENST00000257430.9:c.7663_7666del MANE Select ENSP00000257430.4:p.Ser2555HisfsTer6
ENST00000257430.8:c.7663_7666del ENSP00000257430.4:p.Ser2555HisfsTer6
ENST00000508376.6:c.7663_7666del ENSP00000427089.2:p.Ser2555HisfsTer6
ENST00000520401.1:c.231-13392_231-13389del
NM_000038.5:c.7663_7666del NP_000029.2:p.Ser2555HisfsTer6
NM_001127510.2:c.7663_7666del NP_001120982.1:p.Ser2555HisfsTer6
NM_001127511.2:c.7609_7612del NP_001120983.2:p.Ser2537HisfsTer6
NM_001354895.1:c.7663_7666del NP_001341824.1:p.Ser2555HisfsTer6
NM_001354896.1:c.7717_7720del NP_001341825.1:p.Ser2573HisfsTer6
NM_001354897.1:c.7693_7696del NP_001341826.1:p.Ser2565HisfsTer6
NM_001354898.1:c.7588_7591del NP_001341827.1:p.Ser2530HisfsTer6
NM_001354899.1:c.7579_7582del NP_001341828.1:p.Ser2527HisfsTer6
NM_001354900.1:c.7540_7543del NP_001341829.1:p.Ser2514HisfsTer6
NM_001354901.1:c.7486_7489del NP_001341830.1:p.Ser2496HisfsTer6
NM_001354902.1:c.7390_7393del NP_001341831.1:p.Ser2464HisfsTer6
NM_001354903.1:c.7360_7363del NP_001341832.1:p.Ser2454HisfsTer6
NM_001354904.1:c.7285_7288del NP_001341833.1:p.Ser2429HisfsTer6
NM_001354905.1:c.7183_7186del NP_001341834.1:p.Ser2395HisfsTer6
NM_001354906.1:c.6814_6817del NP_001341835.1:p.Ser2272HisfsTer6
NM_000038.6:c.7663_7666del MANE Select NP_000029.2:p.Ser2555HisfsTer6
NM_001127510.3:c.7663_7666del NP_001120982.1:p.Ser2555HisfsTer6
NM_001127511.3:c.7609_7612del NP_001120983.2:p.Ser2537HisfsTer6
NM_001354895.2:c.7663_7666del NP_001341824.1:p.Ser2555HisfsTer6
NM_001354896.2:c.7717_7720del NP_001341825.1:p.Ser2573HisfsTer6
NM_001354897.2:c.7693_7696del NP_001341826.1:p.Ser2565HisfsTer6
NM_001354898.2:c.7588_7591del NP_001341827.1:p.Ser2530HisfsTer6
NM_001354899.2:c.7579_7582del NP_001341828.1:p.Ser2527HisfsTer6
NM_001354900.2:c.7540_7543del NP_001341829.1:p.Ser2514HisfsTer6
NM_001354901.2:c.7486_7489del NP_001341830.1:p.Ser2496HisfsTer6
NM_001354902.2:c.7390_7393del NP_001341831.1:p.Ser2464HisfsTer6
NM_001354903.2:c.7360_7363del NP_001341832.1:p.Ser2454HisfsTer6
NM_001354904.2:c.7285_7288del NP_001341833.1:p.Ser2429HisfsTer6
NM_001354905.2:c.7183_7186del NP_001341834.1:p.Ser2395HisfsTer6
NM_001354906.2:c.6814_6817del NP_001341835.1:p.Ser2272HisfsTer6