Canonical Allele Identifier: CA2499217483

Gene: APC

Linked Data

• ClinVar Variation Id: 1049654
• ClinVar RCV Id: RCV001356044
• dbSNP Id: rs2149904284

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839616_112839620del , CM000667.2:g.112839616_112839620del	GRCh38
NC_000005.9:g.112175313_112175317del , CM000667.1:g.112175313_112175317del	GRCh37
NC_000005.8:g.112203212_112203216del	NCBI36
NG_008481.4:g.152096_152100del , LRG_130:g.152096_152100del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3687_3691del	ENSP00000484935.2:n.3687_3691del
ENST00000504915.3:c.4076_4080del	ENSP00000473355.2:p.Ser1359IlefsTer11
ENST00000505350.2:c.*4028_*4032del	ENSP00000481752.1:n.*4028_*4032del
ENST00000507379.6:c.3968_3972del	ENSP00000423224.2:p.Ser1323IlefsTer11
ENST00000509732.6:c.4022_4026del	ENSP00000426541.2:p.Ser1341IlefsTer11
ENST00000512211.7:c.4022_4026del	ENSP00000423828.3:p.Ser1341IlefsTer11
ENST00000257430.9:c.4022_4026del MANE Select	ENSP00000257430.4:p.Ser1341IlefsTer11
ENST00000257430.8:c.4022_4026del	ENSP00000257430.4:p.Ser1341IlefsTer11
ENST00000502371.2:c.2375_2379del
ENST00000508376.6:c.4022_4026del	ENSP00000427089.2:p.Ser1341IlefsTer11
ENST00000508624.5:c.*3344_*3348del	ENSP00000424265.1:n.*3344_*3348del
ENST00000520401.1:c.230+10644_230+10648del
NM_000038.5:c.4022_4026del	NP_000029.2:p.Ser1341IlefsTer11
NM_001127510.2:c.4022_4026del	NP_001120982.1:p.Ser1341IlefsTer11
NM_001127511.2:c.3968_3972del	NP_001120983.2:p.Ser1323IlefsTer11
NM_001354895.1:c.4022_4026del	NP_001341824.1:p.Ser1341IlefsTer11
NM_001354896.1:c.4076_4080del	NP_001341825.1:p.Ser1359IlefsTer11
NM_001354897.1:c.4052_4056del	NP_001341826.1:p.Ser1351IlefsTer11
NM_001354898.1:c.3947_3951del	NP_001341827.1:p.Ser1316IlefsTer11
NM_001354899.1:c.3938_3942del	NP_001341828.1:p.Ser1313IlefsTer11
NM_001354900.1:c.3899_3903del	NP_001341829.1:p.Ser1300IlefsTer11
NM_001354901.1:c.3845_3849del	NP_001341830.1:p.Ser1282IlefsTer11
NM_001354902.1:c.3749_3753del	NP_001341831.1:p.Ser1250IlefsTer11
NM_001354903.1:c.3719_3723del	NP_001341832.1:p.Ser1240IlefsTer11
NM_001354904.1:c.3644_3648del	NP_001341833.1:p.Ser1215IlefsTer11
NM_001354905.1:c.3542_3546del	NP_001341834.1:p.Ser1181IlefsTer11
NM_001354906.1:c.3173_3177del	NP_001341835.1:p.Ser1058IlefsTer11
NM_000038.6:c.4022_4026del MANE Select	NP_000029.2:p.Ser1341IlefsTer11
NM_001127510.3:c.4022_4026del	NP_001120982.1:p.Ser1341IlefsTer11
NM_001127511.3:c.3968_3972del	NP_001120983.2:p.Ser1323IlefsTer11
NM_001354895.2:c.4022_4026del	NP_001341824.1:p.Ser1341IlefsTer11
NM_001354896.2:c.4076_4080del	NP_001341825.1:p.Ser1359IlefsTer11
NM_001354897.2:c.4052_4056del	NP_001341826.1:p.Ser1351IlefsTer11
NM_001354898.2:c.3947_3951del	NP_001341827.1:p.Ser1316IlefsTer11
NM_001354899.2:c.3938_3942del	NP_001341828.1:p.Ser1313IlefsTer11
NM_001354900.2:c.3899_3903del	NP_001341829.1:p.Ser1300IlefsTer11
NM_001354901.2:c.3845_3849del	NP_001341830.1:p.Ser1282IlefsTer11
NM_001354902.2:c.3749_3753del	NP_001341831.1:p.Ser1250IlefsTer11
NM_001354903.2:c.3719_3723del	NP_001341832.1:p.Ser1240IlefsTer11
NM_001354904.2:c.3644_3648del	NP_001341833.1:p.Ser1215IlefsTer11
NM_001354905.2:c.3542_3546del	NP_001341834.1:p.Ser1181IlefsTer11
NM_001354906.2:c.3173_3177del	NP_001341835.1:p.Ser1058IlefsTer11