Canonical Allele Identifier: CA658822517

Gene: APC

Linked Data

• ClinVar Variation Id: 545875
• ClinVar RCV Id: RCV000657468
• dbSNP Id: rs1554088780
• MyVariant Identifiers: chr5:g.112179237_112179246del (hg19) ; chr5:g.112843540_112843549del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843540_112843549del , CM000667.2:g.112843540_112843549del	GRCh38
NC_000005.9:g.112179237_112179246del , CM000667.1:g.112179237_112179246del	GRCh37
NC_000005.8:g.112207136_112207145del	NCBI36
NG_008481.4:g.156020_156029del , LRG_130:g.156020_156029del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8000_8009del	ENSP00000473355.2:p.Pro2667LeufsTer8
ENST00000505350.2:c.*7952_*7961del	ENSP00000481752.1:n.*7952_*7961del
ENST00000507379.6:c.7892_7901del	ENSP00000423224.2:p.Pro2631LeufsTer8
ENST00000509732.6:c.7946_7955del	ENSP00000426541.2:p.Pro2649LeufsTer8
ENST00000512211.7:c.7946_7955del	ENSP00000423828.3:p.Pro2649LeufsTer8
ENST00000257430.9:c.7946_7955del MANE Select	ENSP00000257430.4:p.Pro2649LeufsTer8
ENST00000257430.8:c.7946_7955del	ENSP00000257430.4:p.Pro2649LeufsTer8
ENST00000508376.6:c.7946_7955del	ENSP00000427089.2:p.Pro2649LeufsTer8
ENST00000520401.1:c.231-13109_231-13100del
NM_000038.5:c.7946_7955del	NP_000029.2:p.Pro2649LeufsTer8
NM_001127510.2:c.7946_7955del	NP_001120982.1:p.Pro2649LeufsTer8
NM_001127511.2:c.7892_7901del	NP_001120983.2:p.Pro2631LeufsTer8
NM_001354895.1:c.7946_7955del	NP_001341824.1:p.Pro2649LeufsTer8
NM_001354896.1:c.8000_8009del	NP_001341825.1:p.Pro2667LeufsTer8
NM_001354897.1:c.7976_7985del	NP_001341826.1:p.Pro2659LeufsTer8
NM_001354898.1:c.7871_7880del	NP_001341827.1:p.Pro2624LeufsTer8
NM_001354899.1:c.7862_7871del	NP_001341828.1:p.Pro2621LeufsTer8
NM_001354900.1:c.7823_7832del	NP_001341829.1:p.Pro2608LeufsTer8
NM_001354901.1:c.7769_7778del	NP_001341830.1:p.Pro2590LeufsTer8
NM_001354902.1:c.7673_7682del	NP_001341831.1:p.Pro2558LeufsTer8
NM_001354903.1:c.7643_7652del	NP_001341832.1:p.Pro2548LeufsTer8
NM_001354904.1:c.7568_7577del	NP_001341833.1:p.Pro2523LeufsTer8
NM_001354905.1:c.7466_7475del	NP_001341834.1:p.Pro2489LeufsTer8
NM_001354906.1:c.7097_7106del	NP_001341835.1:p.Pro2366LeufsTer8
NM_000038.6:c.7946_7955del MANE Select	NP_000029.2:p.Pro2649LeufsTer8
NM_001127510.3:c.7946_7955del	NP_001120982.1:p.Pro2649LeufsTer8
NM_001127511.3:c.7892_7901del	NP_001120983.2:p.Pro2631LeufsTer8
NM_001354895.2:c.7946_7955del	NP_001341824.1:p.Pro2649LeufsTer8
NM_001354896.2:c.8000_8009del	NP_001341825.1:p.Pro2667LeufsTer8
NM_001354897.2:c.7976_7985del	NP_001341826.1:p.Pro2659LeufsTer8
NM_001354898.2:c.7871_7880del	NP_001341827.1:p.Pro2624LeufsTer8
NM_001354899.2:c.7862_7871del	NP_001341828.1:p.Pro2621LeufsTer8
NM_001354900.2:c.7823_7832del	NP_001341829.1:p.Pro2608LeufsTer8
NM_001354901.2:c.7769_7778del	NP_001341830.1:p.Pro2590LeufsTer8
NM_001354902.2:c.7673_7682del	NP_001341831.1:p.Pro2558LeufsTer8
NM_001354903.2:c.7643_7652del	NP_001341832.1:p.Pro2548LeufsTer8
NM_001354904.2:c.7568_7577del	NP_001341833.1:p.Pro2523LeufsTer8
NM_001354905.2:c.7466_7475del	NP_001341834.1:p.Pro2489LeufsTer8
NM_001354906.2:c.7097_7106del	NP_001341835.1:p.Pro2366LeufsTer8