Canonical Allele Identifier: CA2580072287
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 1765188
ClinVar RCV Id: RCV002376179

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112815553del , CM000667.2:g.112815553del GRCh38
NC_000005.9:g.112151250del , CM000667.1:g.112151250del GRCh37
NC_000005.8:g.112179149del NCBI36
NG_008481.4:g.128033del , LRG_130:g.128033del

Transcript Alleles

HGVS Amino-acid Change
ENST00000502371.3:c.893del ENSP00000484935.2:p.His298ProfsTer7
ENST00000504915.3:c.893del ENSP00000473355.2:p.His298ProfsTer7
ENST00000505084.2:n.949del
ENST00000505350.2:c.*899del ENSP00000481752.1:n.*899del
ENST00000507379.6:c.839del ENSP00000423224.2:p.His280ProfsTer7
ENST00000509732.6:c.893del ENSP00000426541.2:p.His298ProfsTer7
ENST00000512211.7:c.893del ENSP00000423828.3:p.His298ProfsTer7
ENST00000257430.9:c.893del MANE Select ENSP00000257430.4:p.His298ProfsTer7
ENST00000257430.8:c.893del ENSP00000257430.4:p.His298ProfsTer7
ENST00000507379.5:c.839del ENSP00000423224.1:p.His280ProfsTer7
ENST00000508376.6:c.893del ENSP00000427089.2:p.His298ProfsTer7
ENST00000508624.5:c.*215del ENSP00000424265.1:n.*215del
ENST00000512211.6:c.893del ENSP00000423828.2:p.His298ProfsTer7
NM_000038.5:c.893del NP_000029.2:p.His298ProfsTer7
NM_001127510.2:c.893del NP_001120982.1:p.His298ProfsTer7
NM_001127511.2:c.839del NP_001120983.2:p.His280ProfsTer7
NM_001354895.1:c.893del NP_001341824.1:p.His298ProfsTer7
NM_001354896.1:c.893del NP_001341825.1:p.His298ProfsTer7
NM_001354897.1:c.923del NP_001341826.1:p.His308ProfsTer7
NM_001354898.1:c.818del NP_001341827.1:p.His273ProfsTer7
NM_001354899.1:c.809del NP_001341828.1:p.His270ProfsTer7
NM_001354900.1:c.716del NP_001341829.1:p.His239ProfsTer7
NM_001354901.1:c.716del NP_001341830.1:p.His239ProfsTer7
NM_001354902.1:c.923del NP_001341831.1:p.His308ProfsTer7
NM_001354903.1:c.893del NP_001341832.1:p.His298ProfsTer7
NM_001354904.1:c.818del NP_001341833.1:p.His273ProfsTer7
NM_001354905.1:c.716del NP_001341834.1:p.His239ProfsTer7
NM_001354906.1:c.44del NP_001341835.1:p.His15ProfsTer7
NM_000038.6:c.893del MANE Select NP_000029.2:p.His298ProfsTer7
NM_001127510.3:c.893del NP_001120982.1:p.His298ProfsTer7
NM_001127511.3:c.839del NP_001120983.2:p.His280ProfsTer7
NM_001354895.2:c.893del NP_001341824.1:p.His298ProfsTer7
NM_001354896.2:c.893del NP_001341825.1:p.His298ProfsTer7
NM_001354897.2:c.923del NP_001341826.1:p.His308ProfsTer7
NM_001354898.2:c.818del NP_001341827.1:p.His273ProfsTer7
NM_001354899.2:c.809del NP_001341828.1:p.His270ProfsTer7
NM_001354900.2:c.716del NP_001341829.1:p.His239ProfsTer7
NM_001354901.2:c.716del NP_001341830.1:p.His239ProfsTer7
NM_001354902.2:c.923del NP_001341831.1:p.His308ProfsTer7
NM_001354903.2:c.893del NP_001341832.1:p.His298ProfsTer7
NM_001354904.2:c.818del NP_001341833.1:p.His273ProfsTer7
NM_001354905.2:c.716del NP_001341834.1:p.His239ProfsTer7
NM_001354906.2:c.44del NP_001341835.1:p.His15ProfsTer7