Canonical Allele Identifier: CA658760703

Gene: APC

Linked Data

• ClinVar Variation Id: 1458216
• ClinVar RCV Id: RCV003534803
• dbSNP Id: rs2149866029
• PubMed: PMID:20685668

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112837902del , CM000667.2:g.112837902del	GRCh38
NC_000005.9:g.112173599del , CM000667.1:g.112173599del	GRCh37
NC_000005.8:g.112201498del	NCBI36
NG_008481.4:g.150382del , LRG_130:g.150382del

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1973del	ENSP00000484935.2:n.1973del
ENST00000504915.3:c.2362del	ENSP00000473355.2:p.Ser788GlnfsTer7
ENST00000505350.2:c.*2314del	ENSP00000481752.1:n.*2314del
ENST00000507379.6:c.2254del	ENSP00000423224.2:p.Ser752GlnfsTer7
ENST00000509732.6:c.2308del	ENSP00000426541.2:p.Ser770GlnfsTer7
ENST00000512211.7:c.2308del	ENSP00000423828.3:p.Ser770GlnfsTer7
ENST00000257430.9:c.2308del MANE Select	ENSP00000257430.4:p.Ser770GlnfsTer7
ENST00000257430.8:c.2308del	ENSP00000257430.4:p.Ser770GlnfsTer7
ENST00000502371.2:c.661del
ENST00000507379.5:c.2254del	ENSP00000423224.1:p.Ser752GlnfsTer7
ENST00000508376.6:c.2308del	ENSP00000427089.2:p.Ser770GlnfsTer7
ENST00000508624.5:c.*1630del	ENSP00000424265.1:n.*1630del
ENST00000512211.6:c.2308del	ENSP00000423828.2:p.Ser770GlnfsTer7
ENST00000520401.1:c.230+8930del
NM_000038.5:c.2308del	NP_000029.2:p.Ser770GlnfsTer7
NM_001127510.2:c.2308del	NP_001120982.1:p.Ser770GlnfsTer7
NM_001127511.2:c.2254del	NP_001120983.2:p.Ser752GlnfsTer7
NM_001354895.1:c.2308del	NP_001341824.1:p.Ser770GlnfsTer7
NM_001354896.1:c.2362del	NP_001341825.1:p.Ser788GlnfsTer7
NM_001354897.1:c.2338del	NP_001341826.1:p.Ser780GlnfsTer7
NM_001354898.1:c.2233del	NP_001341827.1:p.Ser745GlnfsTer7
NM_001354899.1:c.2224del	NP_001341828.1:p.Ser742GlnfsTer7
NM_001354900.1:c.2185del	NP_001341829.1:p.Ser729GlnfsTer7
NM_001354901.1:c.2131del	NP_001341830.1:p.Ser711GlnfsTer7
NM_001354902.1:c.2035del	NP_001341831.1:p.Ser679GlnfsTer7
NM_001354903.1:c.2005del	NP_001341832.1:p.Ser669GlnfsTer7
NM_001354904.1:c.1930del	NP_001341833.1:p.Ser644GlnfsTer7
NM_001354905.1:c.1828del	NP_001341834.1:p.Ser610GlnfsTer7
NM_001354906.1:c.1459del	NP_001341835.1:p.Ser487GlnfsTer7
NM_000038.6:c.2308del MANE Select	NP_000029.2:p.Ser770GlnfsTer7
NM_001127510.3:c.2308del	NP_001120982.1:p.Ser770GlnfsTer7
NM_001127511.3:c.2254del	NP_001120983.2:p.Ser752GlnfsTer7
NM_001354895.2:c.2308del	NP_001341824.1:p.Ser770GlnfsTer7
NM_001354896.2:c.2362del	NP_001341825.1:p.Ser788GlnfsTer7
NM_001354897.2:c.2338del	NP_001341826.1:p.Ser780GlnfsTer7
NM_001354898.2:c.2233del	NP_001341827.1:p.Ser745GlnfsTer7
NM_001354899.2:c.2224del	NP_001341828.1:p.Ser742GlnfsTer7
NM_001354900.2:c.2185del	NP_001341829.1:p.Ser729GlnfsTer7
NM_001354901.2:c.2131del	NP_001341830.1:p.Ser711GlnfsTer7
NM_001354902.2:c.2035del	NP_001341831.1:p.Ser679GlnfsTer7
NM_001354903.2:c.2005del	NP_001341832.1:p.Ser669GlnfsTer7
NM_001354904.2:c.1930del	NP_001341833.1:p.Ser644GlnfsTer7
NM_001354905.2:c.1828del	NP_001341834.1:p.Ser610GlnfsTer7
NM_001354906.2:c.1459del	NP_001341835.1:p.Ser487GlnfsTer7