Canonical Allele Identifier: CA16618066
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 418005
dbSNP Id: rs1064793020

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112767201_112767204del , CM000667.2:g.112767201_112767204del GRCh38
NC_000005.9:g.112102898_112102901del , CM000667.1:g.112102898_112102901del GRCh37
NC_000005.8:g.112130797_112130800del NCBI36
NG_008481.4:g.79681_79684del , LRG_130:g.79681_79684del

Transcript Alleles

HGVS Amino-acid change
ENST00000502371.3:c.233_236del ENSP00000484935.2:p.Asp78AlafsTer7
ENST00000504915.3:c.233_236del ENSP00000473355.2:p.Asp78AlafsTer7
ENST00000505084.2:n.289_292del
ENST00000505350.2:c.*239_*242del ENSP00000481752.1:n.*239_*242del
ENST00000507379.6:c.263_266del ENSP00000423224.2:p.Asp88AlafsTer7
ENST00000509732.6:c.233_236del ENSP00000426541.2:p.Asp78AlafsTer7
ENST00000512211.7:c.233_236del ENSP00000423828.3:p.Asp78AlafsTer7
ENST00000257430.9:c.233_236del MANE Select ENSP00000257430.4:p.Asp78AlafsTer7
ENST00000257430.8:c.233_236del ENSP00000257430.4:p.Asp78AlafsTer7
ENST00000507379.5:c.263_266del ENSP00000423224.1:p.Asp88AlafsTer7
ENST00000508376.6:c.233_236del ENSP00000427089.2:p.Asp78AlafsTer7
ENST00000508624.5:c.233_236del ENSP00000424265.1:p.Asp78AlafsTer7
ENST00000509732.5:c.233_236del ENSP00000426541.1:p.Asp78AlafsTer7
ENST00000512211.6:c.233_236del ENSP00000423828.2:p.Asp78AlafsTer7
NM_000038.5:c.233_236del NP_000029.2:p.Asp78AlafsTer7
NM_001127510.2:c.233_236del NP_001120982.1:p.Asp78AlafsTer7
NM_001127511.2:c.263_266del NP_001120983.2:p.Asp88AlafsTer7
NM_001354895.1:c.233_236del NP_001341824.1:p.Asp78AlafsTer7
NM_001354896.1:c.233_236del NP_001341825.1:p.Asp78AlafsTer7
NM_001354897.1:c.263_266del NP_001341826.1:p.Asp88AlafsTer7
NM_001354898.1:c.158_161del NP_001341827.1:p.Asp53AlafsTer7
NM_001354899.1:c.233_236del NP_001341828.1:p.Asp78AlafsTer7
NM_001354900.1:c.56_59del NP_001341829.1:p.Asp19AlafsTer7
NM_001354901.1:c.56_59del NP_001341830.1:p.Asp19AlafsTer7
NM_001354902.1:c.263_266del NP_001341831.1:p.Asp88AlafsTer7
NM_001354903.1:c.233_236del NP_001341832.1:p.Asp78AlafsTer7
NM_001354904.1:c.158_161del NP_001341833.1:p.Asp53AlafsTer7
NM_001354905.1:c.56_59del NP_001341834.1:p.Asp19AlafsTer7
NM_001354906.1:c.-803_-800del NP_001341835.1:n.-803_-800del
NM_000038.6:c.233_236del MANE Select NP_000029.2:p.Asp78AlafsTer7
NM_001127510.3:c.233_236del NP_001120982.1:p.Asp78AlafsTer7
NM_001127511.3:c.263_266del NP_001120983.2:p.Asp88AlafsTer7
NM_001354895.2:c.233_236del NP_001341824.1:p.Asp78AlafsTer7
NM_001354896.2:c.233_236del NP_001341825.1:p.Asp78AlafsTer7
NM_001354897.2:c.263_266del NP_001341826.1:p.Asp88AlafsTer7
NM_001354898.2:c.158_161del NP_001341827.1:p.Asp53AlafsTer7
NM_001354899.2:c.233_236del NP_001341828.1:p.Asp78AlafsTer7
NM_001354900.2:c.56_59del NP_001341829.1:p.Asp19AlafsTer7
NM_001354901.2:c.56_59del NP_001341830.1:p.Asp19AlafsTer7
NM_001354902.2:c.263_266del NP_001341831.1:p.Asp88AlafsTer7
NM_001354903.2:c.233_236del NP_001341832.1:p.Asp78AlafsTer7
NM_001354904.2:c.158_161del NP_001341833.1:p.Asp53AlafsTer7
NM_001354905.2:c.56_59del NP_001341834.1:p.Asp19AlafsTer7
NM_001354906.2:c.-803_-800del NP_001341835.1:n.-803_-800del