Canonical Allele Identifier: CA1139659003

Gene: APC

Linked Data

• ClinVar Variation Id: 947262
• ClinVar RCV Id: RCV002411812 ; RCV002241262 ; RCV003770254
• dbSNP Id: rs1766578455

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843438_112843441del , CM000667.2:g.112843438_112843441del	GRCh38
NC_000005.9:g.112179135_112179138del , CM000667.1:g.112179135_112179138del	GRCh37
NC_000005.8:g.112207034_112207037del	NCBI36
NG_008481.4:g.155918_155921del , LRG_130:g.155918_155921del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7898_7901del	ENSP00000473355.2:p.Ile2633LysfsTer28
ENST00000505350.2:c.*7850_*7853del	ENSP00000481752.1:n.*7850_*7853del
ENST00000507379.6:c.7790_7793del	ENSP00000423224.2:p.Ile2597LysfsTer28
ENST00000509732.6:c.7844_7847del	ENSP00000426541.2:p.Ile2615LysfsTer28
ENST00000512211.7:c.7844_7847del	ENSP00000423828.3:p.Ile2615LysfsTer28
ENST00000257430.9:c.7844_7847del MANE Select	ENSP00000257430.4:p.Ile2615LysfsTer28
ENST00000257430.8:c.7844_7847del	ENSP00000257430.4:p.Ile2615LysfsTer28
ENST00000508376.6:c.7844_7847del	ENSP00000427089.2:p.Ile2615LysfsTer28
ENST00000520401.1:c.231-13211_231-13208del
NM_000038.5:c.7844_7847del	NP_000029.2:p.Ile2615LysfsTer28
NM_001127510.2:c.7844_7847del	NP_001120982.1:p.Ile2615LysfsTer28
NM_001127511.2:c.7790_7793del	NP_001120983.2:p.Ile2597LysfsTer28
NM_001354895.1:c.7844_7847del	NP_001341824.1:p.Ile2615LysfsTer28
NM_001354896.1:c.7898_7901del	NP_001341825.1:p.Ile2633LysfsTer28
NM_001354897.1:c.7874_7877del	NP_001341826.1:p.Ile2625LysfsTer28
NM_001354898.1:c.7769_7772del	NP_001341827.1:p.Ile2590LysfsTer28
NM_001354899.1:c.7760_7763del	NP_001341828.1:p.Ile2587LysfsTer28
NM_001354900.1:c.7721_7724del	NP_001341829.1:p.Ile2574LysfsTer28
NM_001354901.1:c.7667_7670del	NP_001341830.1:p.Ile2556LysfsTer28
NM_001354902.1:c.7571_7574del	NP_001341831.1:p.Ile2524LysfsTer28
NM_001354903.1:c.7541_7544del	NP_001341832.1:p.Ile2514LysfsTer28
NM_001354904.1:c.7466_7469del	NP_001341833.1:p.Ile2489LysfsTer28
NM_001354905.1:c.7364_7367del	NP_001341834.1:p.Ile2455LysfsTer28
NM_001354906.1:c.6995_6998del	NP_001341835.1:p.Ile2332LysfsTer28
NM_000038.6:c.7844_7847del MANE Select	NP_000029.2:p.Ile2615LysfsTer28
NM_001127510.3:c.7844_7847del	NP_001120982.1:p.Ile2615LysfsTer28
NM_001127511.3:c.7790_7793del	NP_001120983.2:p.Ile2597LysfsTer28
NM_001354895.2:c.7844_7847del	NP_001341824.1:p.Ile2615LysfsTer28
NM_001354896.2:c.7898_7901del	NP_001341825.1:p.Ile2633LysfsTer28
NM_001354897.2:c.7874_7877del	NP_001341826.1:p.Ile2625LysfsTer28
NM_001354898.2:c.7769_7772del	NP_001341827.1:p.Ile2590LysfsTer28
NM_001354899.2:c.7760_7763del	NP_001341828.1:p.Ile2587LysfsTer28
NM_001354900.2:c.7721_7724del	NP_001341829.1:p.Ile2574LysfsTer28
NM_001354901.2:c.7667_7670del	NP_001341830.1:p.Ile2556LysfsTer28
NM_001354902.2:c.7571_7574del	NP_001341831.1:p.Ile2524LysfsTer28
NM_001354903.2:c.7541_7544del	NP_001341832.1:p.Ile2514LysfsTer28
NM_001354904.2:c.7466_7469del	NP_001341833.1:p.Ile2489LysfsTer28
NM_001354905.2:c.7364_7367del	NP_001341834.1:p.Ile2455LysfsTer28
NM_001354906.2:c.6995_6998del	NP_001341835.1:p.Ile2332LysfsTer28