Canonical Allele Identifier: CA2580612774

Gene: APC

Linked Data

• ClinVar Variation Id: 2567023
• ClinVar RCV Id: RCV003278294 ; RCV003336845

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838979_112838980insA , CM000667.2:g.112838979_112838980insA	GRCh38
NC_000005.9:g.112174676_112174677insA , CM000667.1:g.112174676_112174677insA	GRCh37
NC_000005.8:g.112202575_112202576insA	NCBI36
NG_008481.4:g.151459_151460insA , LRG_130:g.151459_151460insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3050_3051insA	ENSP00000484935.2:n.3050_3051insA
ENST00000504915.3:c.3439_3440insA	ENSP00000473355.2:p.Leu1147TyrfsTer6
ENST00000505350.2:c.*3391_*3392insA	ENSP00000481752.1:n.*3391_*3392insA
ENST00000507379.6:c.3331_3332insA	ENSP00000423224.2:p.Leu1111TyrfsTer6
ENST00000509732.6:c.3385_3386insA	ENSP00000426541.2:p.Leu1129TyrfsTer6
ENST00000512211.7:c.3385_3386insA	ENSP00000423828.3:p.Leu1129TyrfsTer6
ENST00000257430.9:c.3385_3386insA MANE Select	ENSP00000257430.4:p.Leu1129TyrfsTer6
ENST00000257430.8:c.3385_3386insA	ENSP00000257430.4:p.Leu1129TyrfsTer6
ENST00000502371.2:c.1738_1739insA
ENST00000507379.5:c.3331_3332insA	ENSP00000423224.1:p.Leu1111TyrfsTer6
ENST00000508376.6:c.3385_3386insA	ENSP00000427089.2:p.Leu1129TyrfsTer6
ENST00000508624.5:c.*2707_*2708insA	ENSP00000424265.1:n.*2707_*2708insA
ENST00000512211.6:c.3385_3386insA	ENSP00000423828.2:p.Leu1129TyrfsTer6
ENST00000520401.1:c.230+10007_230+10008insA
NM_000038.5:c.3385_3386insA	NP_000029.2:p.Leu1129TyrfsTer6
NM_001127510.2:c.3385_3386insA	NP_001120982.1:p.Leu1129TyrfsTer6
NM_001127511.2:c.3331_3332insA	NP_001120983.2:p.Leu1111TyrfsTer6
NM_001354895.1:c.3385_3386insA	NP_001341824.1:p.Leu1129TyrfsTer6
NM_001354896.1:c.3439_3440insA	NP_001341825.1:p.Leu1147TyrfsTer6
NM_001354897.1:c.3415_3416insA	NP_001341826.1:p.Leu1139TyrfsTer6
NM_001354898.1:c.3310_3311insA	NP_001341827.1:p.Leu1104TyrfsTer6
NM_001354899.1:c.3301_3302insA	NP_001341828.1:p.Leu1101TyrfsTer6
NM_001354900.1:c.3262_3263insA	NP_001341829.1:p.Leu1088TyrfsTer6
NM_001354901.1:c.3208_3209insA	NP_001341830.1:p.Leu1070TyrfsTer6
NM_001354902.1:c.3112_3113insA	NP_001341831.1:p.Leu1038TyrfsTer6
NM_001354903.1:c.3082_3083insA	NP_001341832.1:p.Leu1028TyrfsTer6
NM_001354904.1:c.3007_3008insA	NP_001341833.1:p.Leu1003TyrfsTer6
NM_001354905.1:c.2905_2906insA	NP_001341834.1:p.Leu969TyrfsTer6
NM_001354906.1:c.2536_2537insA	NP_001341835.1:p.Leu846TyrfsTer6
NM_000038.6:c.3385_3386insA MANE Select	NP_000029.2:p.Leu1129TyrfsTer6
NM_001127510.3:c.3385_3386insA	NP_001120982.1:p.Leu1129TyrfsTer6
NM_001127511.3:c.3331_3332insA	NP_001120983.2:p.Leu1111TyrfsTer6
NM_001354895.2:c.3385_3386insA	NP_001341824.1:p.Leu1129TyrfsTer6
NM_001354896.2:c.3439_3440insA	NP_001341825.1:p.Leu1147TyrfsTer6
NM_001354897.2:c.3415_3416insA	NP_001341826.1:p.Leu1139TyrfsTer6
NM_001354898.2:c.3310_3311insA	NP_001341827.1:p.Leu1104TyrfsTer6
NM_001354899.2:c.3301_3302insA	NP_001341828.1:p.Leu1101TyrfsTer6
NM_001354900.2:c.3262_3263insA	NP_001341829.1:p.Leu1088TyrfsTer6
NM_001354901.2:c.3208_3209insA	NP_001341830.1:p.Leu1070TyrfsTer6
NM_001354902.2:c.3112_3113insA	NP_001341831.1:p.Leu1038TyrfsTer6
NM_001354903.2:c.3082_3083insA	NP_001341832.1:p.Leu1028TyrfsTer6
NM_001354904.2:c.3007_3008insA	NP_001341833.1:p.Leu1003TyrfsTer6
NM_001354905.2:c.2905_2906insA	NP_001341834.1:p.Leu969TyrfsTer6
NM_001354906.2:c.2536_2537insA	NP_001341835.1:p.Leu846TyrfsTer6