Canonical Allele Identifier: CA16611585
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 411466
ClinVar RCV Id: RCV002230549
dbSNP Id: rs1060503321
MyVariant Identifiers: chr5:g.112173424del (hg19) chr5:g.112837727del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112837727del , CM000667.2:g.112837727del GRCh38
NC_000005.9:g.112173424del , CM000667.1:g.112173424del GRCh37
NC_000005.8:g.112201323del NCBI36
NG_008481.4:g.150207del , LRG_130:g.150207del

Transcript Alleles

HGVS Amino-acid change
ENST00000502371.3:c.1798del ENSP00000484935.2:n.1798del
ENST00000504915.3:c.2187del ENSP00000473355.2:p.His730IlefsTer6
ENST00000505350.2:c.*2139del ENSP00000481752.1:n.*2139del
ENST00000507379.6:c.2079del ENSP00000423224.2:p.His694IlefsTer6
ENST00000509732.6:c.2133del ENSP00000426541.2:p.His712IlefsTer6
ENST00000512211.7:c.2133del ENSP00000423828.3:p.His712IlefsTer6
ENST00000257430.9:c.2133del MANE Select ENSP00000257430.4:p.His712IlefsTer6
ENST00000257430.8:c.2133del ENSP00000257430.4:p.His712IlefsTer6
ENST00000502371.2:c.486del
ENST00000507379.5:c.2079del ENSP00000423224.1:p.His694IlefsTer6
ENST00000508376.6:c.2133del ENSP00000427089.2:p.His712IlefsTer6
ENST00000508624.5:c.*1455del ENSP00000424265.1:n.*1455del
ENST00000512211.6:c.2133del ENSP00000423828.2:p.His712IlefsTer6
ENST00000520401.1:c.230+8755del
NM_000038.5:c.2133del NP_000029.2:p.His712IlefsTer6
NM_001127510.2:c.2133del NP_001120982.1:p.His712IlefsTer6
NM_001127511.2:c.2079del NP_001120983.2:p.His694IlefsTer6
NM_001354895.1:c.2133del NP_001341824.1:p.His712IlefsTer6
NM_001354896.1:c.2187del NP_001341825.1:p.His730IlefsTer6
NM_001354897.1:c.2163del NP_001341826.1:p.His722IlefsTer6
NM_001354898.1:c.2058del NP_001341827.1:p.His687IlefsTer6
NM_001354899.1:c.2049del NP_001341828.1:p.His684IlefsTer6
NM_001354900.1:c.2010del NP_001341829.1:p.His671IlefsTer6
NM_001354901.1:c.1956del NP_001341830.1:p.His653IlefsTer6
NM_001354902.1:c.1860del NP_001341831.1:p.His621IlefsTer6
NM_001354903.1:c.1830del NP_001341832.1:p.His611IlefsTer6
NM_001354904.1:c.1755del NP_001341833.1:p.His586IlefsTer6
NM_001354905.1:c.1653del NP_001341834.1:p.His552IlefsTer6
NM_001354906.1:c.1284del NP_001341835.1:p.His429IlefsTer6
NM_000038.6:c.2133del MANE Select NP_000029.2:p.His712IlefsTer6
NM_001127510.3:c.2133del NP_001120982.1:p.His712IlefsTer6
NM_001127511.3:c.2079del NP_001120983.2:p.His694IlefsTer6
NM_001354895.2:c.2133del NP_001341824.1:p.His712IlefsTer6
NM_001354896.2:c.2187del NP_001341825.1:p.His730IlefsTer6
NM_001354897.2:c.2163del NP_001341826.1:p.His722IlefsTer6
NM_001354898.2:c.2058del NP_001341827.1:p.His687IlefsTer6
NM_001354899.2:c.2049del NP_001341828.1:p.His684IlefsTer6
NM_001354900.2:c.2010del NP_001341829.1:p.His671IlefsTer6
NM_001354901.2:c.1956del NP_001341830.1:p.His653IlefsTer6
NM_001354902.2:c.1860del NP_001341831.1:p.His621IlefsTer6
NM_001354903.2:c.1830del NP_001341832.1:p.His611IlefsTer6
NM_001354904.2:c.1755del NP_001341833.1:p.His586IlefsTer6
NM_001354905.2:c.1653del NP_001341834.1:p.His552IlefsTer6
NM_001354906.2:c.1284del NP_001341835.1:p.His429IlefsTer6
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