Canonical Allele Identifier: CA645372418

Gene: APC

Linked Data

• ClinVar Variation Id: 433619
• ClinVar RCV Id: RCV000504522 ; RCV002291650 ; RCV002383959 ; RCV002524124 ; RCV003335414
• dbSNP Id: rs1554080698
• MyVariant Identifiers: chr5:g.112157634_112157635dup (hg19) ; chr5:g.112821937_112821938dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112821937_112821938dup , CM000667.2:g.112821937_112821938dup	GRCh38
NC_000005.9:g.112157634_112157635dup , CM000667.1:g.112157634_112157635dup	GRCh37
NC_000005.8:g.112185533_112185534dup	NCBI36
NG_008481.4:g.134417_134418dup , LRG_130:g.134417_134418dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1354_1355dup	ENSP00000484935.2:p.Leu453PhefsTer2
ENST00000504915.3:c.1354_1355dup	ENSP00000473355.2:p.Leu453PhefsTer2
ENST00000505084.2:n.1410_1411dup
ENST00000505350.2:c.*1360_*1361dup	ENSP00000481752.1:n.*1360_*1361dup
ENST00000507379.6:c.1300_1301dup	ENSP00000423224.2:p.Leu435PhefsTer2
ENST00000509732.6:c.1354_1355dup	ENSP00000426541.2:p.Leu453PhefsTer2
ENST00000512211.7:c.1354_1355dup	ENSP00000423828.3:p.Leu453PhefsTer2
ENST00000257430.9:c.1354_1355dup MANE Select	ENSP00000257430.4:p.Leu453PhefsTer2
ENST00000257430.8:c.1354_1355dup	ENSP00000257430.4:p.Leu453PhefsTer2
ENST00000502371.2:c.42_43dup
ENST00000507379.5:c.1300_1301dup	ENSP00000423224.1:p.Leu435PhefsTer2
ENST00000508376.6:c.1354_1355dup	ENSP00000427089.2:p.Leu453PhefsTer2
ENST00000508624.5:c.*676_*677dup	ENSP00000424265.1:n.*676_*677dup
ENST00000512211.6:c.1354_1355dup	ENSP00000423828.2:p.Leu453PhefsTer2
NM_000038.5:c.1354_1355dup	NP_000029.2:p.Leu453PhefsTer2
NM_001127510.2:c.1354_1355dup	NP_001120982.1:p.Leu453PhefsTer2
NM_001127511.2:c.1300_1301dup	NP_001120983.2:p.Leu435PhefsTer2
NM_001354895.1:c.1354_1355dup	NP_001341824.1:p.Leu453PhefsTer2
NM_001354896.1:c.1354_1355dup	NP_001341825.1:p.Leu453PhefsTer2
NM_001354897.1:c.1384_1385dup	NP_001341826.1:p.Leu463PhefsTer2
NM_001354898.1:c.1279_1280dup	NP_001341827.1:p.Leu428PhefsTer2
NM_001354899.1:c.1270_1271dup	NP_001341828.1:p.Leu425PhefsTer2
NM_001354900.1:c.1177_1178dup	NP_001341829.1:p.Leu394PhefsTer2
NM_001354901.1:c.1177_1178dup	NP_001341830.1:p.Leu394PhefsTer2
NM_001354902.1:c.1081_1082dup	NP_001341831.1:p.Leu362PhefsTer2
NM_001354903.1:c.1051_1052dup	NP_001341832.1:p.Leu352PhefsTer2
NM_001354904.1:c.976_977dup	NP_001341833.1:p.Leu327PhefsTer2
NM_001354905.1:c.874_875dup	NP_001341834.1:p.Leu293PhefsTer2
NM_001354906.1:c.505_506dup	NP_001341835.1:p.Leu170PhefsTer2
NM_000038.6:c.1354_1355dup MANE Select	NP_000029.2:p.Leu453PhefsTer2
NM_001127510.3:c.1354_1355dup	NP_001120982.1:p.Leu453PhefsTer2
NM_001127511.3:c.1300_1301dup	NP_001120983.2:p.Leu435PhefsTer2
NM_001354895.2:c.1354_1355dup	NP_001341824.1:p.Leu453PhefsTer2
NM_001354896.2:c.1354_1355dup	NP_001341825.1:p.Leu453PhefsTer2
NM_001354897.2:c.1384_1385dup	NP_001341826.1:p.Leu463PhefsTer2
NM_001354898.2:c.1279_1280dup	NP_001341827.1:p.Leu428PhefsTer2
NM_001354899.2:c.1270_1271dup	NP_001341828.1:p.Leu425PhefsTer2
NM_001354900.2:c.1177_1178dup	NP_001341829.1:p.Leu394PhefsTer2
NM_001354901.2:c.1177_1178dup	NP_001341830.1:p.Leu394PhefsTer2
NM_001354902.2:c.1081_1082dup	NP_001341831.1:p.Leu362PhefsTer2
NM_001354903.2:c.1051_1052dup	NP_001341832.1:p.Leu352PhefsTer2
NM_001354904.2:c.976_977dup	NP_001341833.1:p.Leu327PhefsTer2
NM_001354905.2:c.874_875dup	NP_001341834.1:p.Leu293PhefsTer2
NM_001354906.2:c.505_506dup	NP_001341835.1:p.Leu170PhefsTer2