Canonical Allele Identifier: CA2582341421
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2584131
ClinVar RCV Id: RCV003335579
dbSNP Id: rs2149934476

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112840796del , CM000667.2:g.112840796del GRCh38
NC_000005.9:g.112176493del , CM000667.1:g.112176493del GRCh37
NC_000005.8:g.112204392del NCBI36
NG_008481.4:g.153276del , LRG_130:g.153276del

Transcript Alleles

HGVS Amino-acid change
ENST00000504915.3:c.5256del ENSP00000473355.2:p.Ser1755ValfsTer7
ENST00000505350.2:c.*5208del ENSP00000481752.1:n.*5208del
ENST00000507379.6:c.5148del ENSP00000423224.2:p.Ser1719ValfsTer7
ENST00000509732.6:c.5202del ENSP00000426541.2:p.Ser1737ValfsTer7
ENST00000512211.7:c.5202del ENSP00000423828.3:p.Ser1737ValfsTer7
ENST00000257430.9:c.5202del MANE Select ENSP00000257430.4:p.Ser1737ValfsTer7
ENST00000257430.8:c.5202del ENSP00000257430.4:p.Ser1737ValfsTer7
ENST00000508376.6:c.5202del ENSP00000427089.2:p.Ser1737ValfsTer7
ENST00000508624.5:c.*4524del ENSP00000424265.1:n.*4524del
ENST00000520401.1:c.230+11824del
NM_000038.5:c.5202del NP_000029.2:p.Ser1737ValfsTer7
NM_001127510.2:c.5202del NP_001120982.1:p.Ser1737ValfsTer7
NM_001127511.2:c.5148del NP_001120983.2:p.Ser1719ValfsTer7
NM_001354895.1:c.5202del NP_001341824.1:p.Ser1737ValfsTer7
NM_001354896.1:c.5256del NP_001341825.1:p.Ser1755ValfsTer7
NM_001354897.1:c.5232del NP_001341826.1:p.Ser1747ValfsTer7
NM_001354898.1:c.5127del NP_001341827.1:p.Ser1712ValfsTer7
NM_001354899.1:c.5118del NP_001341828.1:p.Ser1709ValfsTer7
NM_001354900.1:c.5079del NP_001341829.1:p.Ser1696ValfsTer7
NM_001354901.1:c.5025del NP_001341830.1:p.Ser1678ValfsTer7
NM_001354902.1:c.4929del NP_001341831.1:p.Ser1646ValfsTer7
NM_001354903.1:c.4899del NP_001341832.1:p.Ser1636ValfsTer7
NM_001354904.1:c.4824del NP_001341833.1:p.Ser1611ValfsTer7
NM_001354905.1:c.4722del NP_001341834.1:p.Ser1577ValfsTer7
NM_001354906.1:c.4353del NP_001341835.1:p.Ser1454ValfsTer7
NM_000038.6:c.5202del MANE Select NP_000029.2:p.Ser1737ValfsTer7
NM_001127510.3:c.5202del NP_001120982.1:p.Ser1737ValfsTer7
NM_001127511.3:c.5148del NP_001120983.2:p.Ser1719ValfsTer7
NM_001354895.2:c.5202del NP_001341824.1:p.Ser1737ValfsTer7
NM_001354896.2:c.5256del NP_001341825.1:p.Ser1755ValfsTer7
NM_001354897.2:c.5232del NP_001341826.1:p.Ser1747ValfsTer7
NM_001354898.2:c.5127del NP_001341827.1:p.Ser1712ValfsTer7
NM_001354899.2:c.5118del NP_001341828.1:p.Ser1709ValfsTer7
NM_001354900.2:c.5079del NP_001341829.1:p.Ser1696ValfsTer7
NM_001354901.2:c.5025del NP_001341830.1:p.Ser1678ValfsTer7
NM_001354902.2:c.4929del NP_001341831.1:p.Ser1646ValfsTer7
NM_001354903.2:c.4899del NP_001341832.1:p.Ser1636ValfsTer7
NM_001354904.2:c.4824del NP_001341833.1:p.Ser1611ValfsTer7
NM_001354905.2:c.4722del NP_001341834.1:p.Ser1577ValfsTer7
NM_001354906.2:c.4353del NP_001341835.1:p.Ser1454ValfsTer7