Canonical Allele Identifier: CA010819

Gene: APC

Linked Data

• ClinVar Variation Id: 820
• ClinVar RCV Id: RCV000000862
• dbSNP Id: rs397509433
• MyVariant Identifiers: chr5:g.112177233del (hg19) ; chr5:g.112841536del (hg38)
• PubMed: PMID:7797123 ; PMID:8931709

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841536del , CM000667.2:g.112841536del	GRCh38
NC_000005.9:g.112177233del , CM000667.1:g.112177233del	GRCh37
NC_000005.8:g.112205132del	NCBI36
NG_008481.4:g.154016del , LRG_130:g.154016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5996del	ENSP00000473355.2:p.Asn1999IlefsTer?
ENST00000505350.2:c.*5948del	ENSP00000481752.1:n.*5948del
ENST00000507379.6:c.5888del	ENSP00000423224.2:p.Asn1963IlefsTer?
ENST00000509732.6:c.5942del	ENSP00000426541.2:p.Asn1981IlefsTer?
ENST00000512211.7:c.5942del	ENSP00000423828.3:p.Asn1981IlefsTer?
ENST00000257430.9:c.5942del MANE Select	ENSP00000257430.4:p.Asn1981IlefsTer?
ENST00000257430.8:c.5942del	ENSP00000257430.4:p.Asn1981IlefsTer?
ENST00000508376.6:c.5942del	ENSP00000427089.2:p.Asn1981IlefsTer?
ENST00000508624.5:c.*5264del	ENSP00000424265.1:n.*5264del
ENST00000520401.1:c.230+12564del
NM_000038.5:c.5942del	NP_000029.2:p.Asn1981IlefsTer?
NM_001127510.2:c.5942del	NP_001120982.1:p.Asn1981IlefsTer?
NM_001127511.2:c.5888del	NP_001120983.2:p.Asn1963IlefsTer?
NM_001354895.1:c.5942del	NP_001341824.1:p.Asn1981IlefsTer?
NM_001354896.1:c.5996del	NP_001341825.1:p.Asn1999IlefsTer?
NM_001354897.1:c.5972del	NP_001341826.1:p.Asn1991IlefsTer?
NM_001354898.1:c.5867del	NP_001341827.1:p.Asn1956IlefsTer?
NM_001354899.1:c.5858del	NP_001341828.1:p.Asn1953IlefsTer?
NM_001354900.1:c.5819del	NP_001341829.1:p.Asn1940IlefsTer?
NM_001354901.1:c.5765del	NP_001341830.1:p.Asn1922IlefsTer?
NM_001354902.1:c.5669del	NP_001341831.1:p.Asn1890IlefsTer?
NM_001354903.1:c.5639del	NP_001341832.1:p.Asn1880IlefsTer?
NM_001354904.1:c.5564del	NP_001341833.1:p.Asn1855IlefsTer?
NM_001354905.1:c.5462del	NP_001341834.1:p.Asn1821IlefsTer?
NM_001354906.1:c.5093del	NP_001341835.1:p.Asn1698IlefsTer?
NM_000038.6:c.5942del MANE Select	NP_000029.2:p.Asn1981IlefsTer?
NM_001127510.3:c.5942del	NP_001120982.1:p.Asn1981IlefsTer?
NM_001127511.3:c.5888del	NP_001120983.2:p.Asn1963IlefsTer?
NM_001354895.2:c.5942del	NP_001341824.1:p.Asn1981IlefsTer?
NM_001354896.2:c.5996del	NP_001341825.1:p.Asn1999IlefsTer?
NM_001354897.2:c.5972del	NP_001341826.1:p.Asn1991IlefsTer?
NM_001354898.2:c.5867del	NP_001341827.1:p.Asn1956IlefsTer?
NM_001354899.2:c.5858del	NP_001341828.1:p.Asn1953IlefsTer?
NM_001354900.2:c.5819del	NP_001341829.1:p.Asn1940IlefsTer?
NM_001354901.2:c.5765del	NP_001341830.1:p.Asn1922IlefsTer?
NM_001354902.2:c.5669del	NP_001341831.1:p.Asn1890IlefsTer?
NM_001354903.2:c.5639del	NP_001341832.1:p.Asn1880IlefsTer?
NM_001354904.2:c.5564del	NP_001341833.1:p.Asn1855IlefsTer?
NM_001354905.2:c.5462del	NP_001341834.1:p.Asn1821IlefsTer?
NM_001354906.2:c.5093del	NP_001341835.1:p.Asn1698IlefsTer?