Canonical Allele Identifier: CA658822518

Gene: APC

Linked Data

• ClinVar Variation Id: 545737
• ClinVar RCV Id: RCV000657194 ; RCV003534544
• dbSNP Id: rs1554088793
• MyVariant Identifiers: chr5:g.112179250_112179253del (hg19) ; chr5:g.112843553_112843556del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843553_112843556del , CM000667.2:g.112843553_112843556del	GRCh38
NC_000005.9:g.112179250_112179253del , CM000667.1:g.112179250_112179253del	GRCh37
NC_000005.8:g.112207149_112207152del	NCBI36
NG_008481.4:g.156033_156036del , LRG_130:g.156033_156036del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8013_8016del	ENSP00000473355.2:p.Thr2672ArgfsTer5
ENST00000505350.2:c.*7965_*7968del	ENSP00000481752.1:n.*7965_*7968del
ENST00000507379.6:c.7905_7908del	ENSP00000423224.2:p.Thr2636ArgfsTer5
ENST00000509732.6:c.7959_7962del	ENSP00000426541.2:p.Thr2654ArgfsTer5
ENST00000512211.7:c.7959_7962del	ENSP00000423828.3:p.Thr2654ArgfsTer5
ENST00000257430.9:c.7959_7962del MANE Select	ENSP00000257430.4:p.Thr2654ArgfsTer5
ENST00000257430.8:c.7959_7962del	ENSP00000257430.4:p.Thr2654ArgfsTer5
ENST00000508376.6:c.7959_7962del	ENSP00000427089.2:p.Thr2654ArgfsTer5
ENST00000520401.1:c.231-13096_231-13093del
NM_000038.5:c.7959_7962del	NP_000029.2:p.Thr2654ArgfsTer5
NM_001127510.2:c.7959_7962del	NP_001120982.1:p.Thr2654ArgfsTer5
NM_001127511.2:c.7905_7908del	NP_001120983.2:p.Thr2636ArgfsTer5
NM_001354895.1:c.7959_7962del	NP_001341824.1:p.Thr2654ArgfsTer5
NM_001354896.1:c.8013_8016del	NP_001341825.1:p.Thr2672ArgfsTer5
NM_001354897.1:c.7989_7992del	NP_001341826.1:p.Thr2664ArgfsTer5
NM_001354898.1:c.7884_7887del	NP_001341827.1:p.Thr2629ArgfsTer5
NM_001354899.1:c.7875_7878del	NP_001341828.1:p.Thr2626ArgfsTer5
NM_001354900.1:c.7836_7839del	NP_001341829.1:p.Thr2613ArgfsTer5
NM_001354901.1:c.7782_7785del	NP_001341830.1:p.Thr2595ArgfsTer5
NM_001354902.1:c.7686_7689del	NP_001341831.1:p.Thr2563ArgfsTer5
NM_001354903.1:c.7656_7659del	NP_001341832.1:p.Thr2553ArgfsTer5
NM_001354904.1:c.7581_7584del	NP_001341833.1:p.Thr2528ArgfsTer5
NM_001354905.1:c.7479_7482del	NP_001341834.1:p.Thr2494ArgfsTer5
NM_001354906.1:c.7110_7113del	NP_001341835.1:p.Thr2371ArgfsTer5
NM_000038.6:c.7959_7962del MANE Select	NP_000029.2:p.Thr2654ArgfsTer5
NM_001127510.3:c.7959_7962del	NP_001120982.1:p.Thr2654ArgfsTer5
NM_001127511.3:c.7905_7908del	NP_001120983.2:p.Thr2636ArgfsTer5
NM_001354895.2:c.7959_7962del	NP_001341824.1:p.Thr2654ArgfsTer5
NM_001354896.2:c.8013_8016del	NP_001341825.1:p.Thr2672ArgfsTer5
NM_001354897.2:c.7989_7992del	NP_001341826.1:p.Thr2664ArgfsTer5
NM_001354898.2:c.7884_7887del	NP_001341827.1:p.Thr2629ArgfsTer5
NM_001354899.2:c.7875_7878del	NP_001341828.1:p.Thr2626ArgfsTer5
NM_001354900.2:c.7836_7839del	NP_001341829.1:p.Thr2613ArgfsTer5
NM_001354901.2:c.7782_7785del	NP_001341830.1:p.Thr2595ArgfsTer5
NM_001354902.2:c.7686_7689del	NP_001341831.1:p.Thr2563ArgfsTer5
NM_001354903.2:c.7656_7659del	NP_001341832.1:p.Thr2553ArgfsTer5
NM_001354904.2:c.7581_7584del	NP_001341833.1:p.Thr2528ArgfsTer5
NM_001354905.2:c.7479_7482del	NP_001341834.1:p.Thr2494ArgfsTer5
NM_001354906.2:c.7110_7113del	NP_001341835.1:p.Thr2371ArgfsTer5