Canonical Allele Identifier: CA645543565

Gene: APC

Linked Data

• ClinVar Variation Id: 823696
• ClinVar RCV Id: RCV001020154 ; RCV003337346
• dbSNP Id: rs1114167616
• COSMIC: COSM6056984

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838979_112838980del , CM000667.2:g.112838979_112838980del	GRCh38
NC_000005.9:g.112174676_112174677del , CM000667.1:g.112174676_112174677del	GRCh37
NC_000005.8:g.112202575_112202576del	NCBI36
NG_008481.4:g.151459_151460del , LRG_130:g.151459_151460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3050_3051del	ENSP00000484935.2:n.3050_3051del
ENST00000504915.3:c.3439_3440del	ENSP00000473355.2:p.Leu1147ValfsTer5
ENST00000505350.2:c.*3391_*3392del	ENSP00000481752.1:n.*3391_*3392del
ENST00000507379.6:c.3331_3332del	ENSP00000423224.2:p.Leu1111ValfsTer5
ENST00000509732.6:c.3385_3386del	ENSP00000426541.2:p.Leu1129ValfsTer5
ENST00000512211.7:c.3385_3386del	ENSP00000423828.3:p.Leu1129ValfsTer5
ENST00000257430.9:c.3385_3386del MANE Select	ENSP00000257430.4:p.Leu1129ValfsTer5
ENST00000257430.8:c.3385_3386del	ENSP00000257430.4:p.Leu1129ValfsTer5
ENST00000502371.2:c.1738_1739del
ENST00000507379.5:c.3331_3332del	ENSP00000423224.1:p.Leu1111ValfsTer5
ENST00000508376.6:c.3385_3386del	ENSP00000427089.2:p.Leu1129ValfsTer5
ENST00000508624.5:c.*2707_*2708del	ENSP00000424265.1:n.*2707_*2708del
ENST00000512211.6:c.3385_3386del	ENSP00000423828.2:p.Leu1129ValfsTer5
ENST00000520401.1:c.230+10007_230+10008del
NM_000038.5:c.3385_3386del	NP_000029.2:p.Leu1129ValfsTer5
NM_001127510.2:c.3385_3386del	NP_001120982.1:p.Leu1129ValfsTer5
NM_001127511.2:c.3331_3332del	NP_001120983.2:p.Leu1111ValfsTer5
NM_001354895.1:c.3385_3386del	NP_001341824.1:p.Leu1129ValfsTer5
NM_001354896.1:c.3439_3440del	NP_001341825.1:p.Leu1147ValfsTer5
NM_001354897.1:c.3415_3416del	NP_001341826.1:p.Leu1139ValfsTer5
NM_001354898.1:c.3310_3311del	NP_001341827.1:p.Leu1104ValfsTer5
NM_001354899.1:c.3301_3302del	NP_001341828.1:p.Leu1101ValfsTer5
NM_001354900.1:c.3262_3263del	NP_001341829.1:p.Leu1088ValfsTer5
NM_001354901.1:c.3208_3209del	NP_001341830.1:p.Leu1070ValfsTer5
NM_001354902.1:c.3112_3113del	NP_001341831.1:p.Leu1038ValfsTer5
NM_001354903.1:c.3082_3083del	NP_001341832.1:p.Leu1028ValfsTer5
NM_001354904.1:c.3007_3008del	NP_001341833.1:p.Leu1003ValfsTer5
NM_001354905.1:c.2905_2906del	NP_001341834.1:p.Leu969ValfsTer5
NM_001354906.1:c.2536_2537del	NP_001341835.1:p.Leu846ValfsTer5
NM_000038.6:c.3385_3386del MANE Select	NP_000029.2:p.Leu1129ValfsTer5
NM_001127510.3:c.3385_3386del	NP_001120982.1:p.Leu1129ValfsTer5
NM_001127511.3:c.3331_3332del	NP_001120983.2:p.Leu1111ValfsTer5
NM_001354895.2:c.3385_3386del	NP_001341824.1:p.Leu1129ValfsTer5
NM_001354896.2:c.3439_3440del	NP_001341825.1:p.Leu1147ValfsTer5
NM_001354897.2:c.3415_3416del	NP_001341826.1:p.Leu1139ValfsTer5
NM_001354898.2:c.3310_3311del	NP_001341827.1:p.Leu1104ValfsTer5
NM_001354899.2:c.3301_3302del	NP_001341828.1:p.Leu1101ValfsTer5
NM_001354900.2:c.3262_3263del	NP_001341829.1:p.Leu1088ValfsTer5
NM_001354901.2:c.3208_3209del	NP_001341830.1:p.Leu1070ValfsTer5
NM_001354902.2:c.3112_3113del	NP_001341831.1:p.Leu1038ValfsTer5
NM_001354903.2:c.3082_3083del	NP_001341832.1:p.Leu1028ValfsTer5
NM_001354904.2:c.3007_3008del	NP_001341833.1:p.Leu1003ValfsTer5
NM_001354905.2:c.2905_2906del	NP_001341834.1:p.Leu969ValfsTer5
NM_001354906.2:c.2536_2537del	NP_001341835.1:p.Leu846ValfsTer5