Canonical Allele Identifier: CA645372416

Gene: APC

Linked Data

• ClinVar Variation Id: 433615
• ClinVar RCV Id: RCV000503133
• dbSNP Id: rs1114167567
• COSMIC: COSM18769
• MyVariant Identifiers: chr5:g.112151250_112151251del (hg19) ; chr5:g.112815553_112815554del (hg38)
• PubMed: PMID:14961559 ; PMID:19029688 ; PMID:20685668

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112815553_112815554del , CM000667.2:g.112815553_112815554del	GRCh38
NC_000005.9:g.112151250_112151251del , CM000667.1:g.112151250_112151251del	GRCh37
NC_000005.8:g.112179149_112179150del	NCBI36
NG_008481.4:g.128033_128034del , LRG_130:g.128033_128034del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.893_894del	ENSP00000484935.2:p.His298LeufsTer28
ENST00000504915.3:c.893_894del	ENSP00000473355.2:p.His298LeufsTer28
ENST00000505084.2:n.949_950del
ENST00000505350.2:c.*899_*900del	ENSP00000481752.1:n.*899_*900del
ENST00000507379.6:c.839_840del	ENSP00000423224.2:p.His280LeufsTer28
ENST00000509732.6:c.893_894del	ENSP00000426541.2:p.His298LeufsTer28
ENST00000512211.7:c.893_894del	ENSP00000423828.3:p.His298LeufsTer28
ENST00000257430.9:c.893_894del MANE Select	ENSP00000257430.4:p.His298LeufsTer28
ENST00000257430.8:c.893_894del	ENSP00000257430.4:p.His298LeufsTer28
ENST00000507379.5:c.839_840del	ENSP00000423224.1:p.His280LeufsTer28
ENST00000508376.6:c.893_894del	ENSP00000427089.2:p.His298LeufsTer28
ENST00000508624.5:c.*215_*216del	ENSP00000424265.1:n.*215_*216del
ENST00000512211.6:c.893_894del	ENSP00000423828.2:p.His298LeufsTer28
NM_000038.5:c.893_894del	NP_000029.2:p.His298LeufsTer28
NM_001127510.2:c.893_894del	NP_001120982.1:p.His298LeufsTer28
NM_001127511.2:c.839_840del	NP_001120983.2:p.His280LeufsTer28
NM_001354895.1:c.893_894del	NP_001341824.1:p.His298LeufsTer28
NM_001354896.1:c.893_894del	NP_001341825.1:p.His298LeufsTer28
NM_001354897.1:c.923_924del	NP_001341826.1:p.His308LeufsTer28
NM_001354898.1:c.818_819del	NP_001341827.1:p.His273LeufsTer28
NM_001354899.1:c.809_810del	NP_001341828.1:p.His270LeufsTer28
NM_001354900.1:c.716_717del	NP_001341829.1:p.His239LeufsTer28
NM_001354901.1:c.716_717del	NP_001341830.1:p.His239LeufsTer28
NM_001354902.1:c.923_924del	NP_001341831.1:p.His308LeufsTer19
NM_001354903.1:c.893_894del	NP_001341832.1:p.His298LeufsTer19
NM_001354904.1:c.818_819del	NP_001341833.1:p.His273LeufsTer19
NM_001354905.1:c.716_717del	NP_001341834.1:p.His239LeufsTer19
NM_001354906.1:c.44_45del	NP_001341835.1:p.His15LeufsTer28
NM_000038.6:c.893_894del MANE Select	NP_000029.2:p.His298LeufsTer28
NM_001127510.3:c.893_894del	NP_001120982.1:p.His298LeufsTer28
NM_001127511.3:c.839_840del	NP_001120983.2:p.His280LeufsTer28
NM_001354895.2:c.893_894del	NP_001341824.1:p.His298LeufsTer28
NM_001354896.2:c.893_894del	NP_001341825.1:p.His298LeufsTer28
NM_001354897.2:c.923_924del	NP_001341826.1:p.His308LeufsTer28
NM_001354898.2:c.818_819del	NP_001341827.1:p.His273LeufsTer28
NM_001354899.2:c.809_810del	NP_001341828.1:p.His270LeufsTer28
NM_001354900.2:c.716_717del	NP_001341829.1:p.His239LeufsTer28
NM_001354901.2:c.716_717del	NP_001341830.1:p.His239LeufsTer28
NM_001354902.2:c.923_924del	NP_001341831.1:p.His308LeufsTer19
NM_001354903.2:c.893_894del	NP_001341832.1:p.His298LeufsTer19
NM_001354904.2:c.818_819del	NP_001341833.1:p.His273LeufsTer19
NM_001354905.2:c.716_717del	NP_001341834.1:p.His239LeufsTer19
NM_001354906.2:c.44_45del	NP_001341835.1:p.His15LeufsTer28