Canonical Allele Identifier: CA645369348

Gene: APC

Linked Data

• ClinVar Variation Id: 428165
• ClinVar RCV Id: RCV000491023
• dbSNP Id: rs1114167602
• MyVariant Identifiers: chr5:g.112162860_112162863del (hg19) ; chr5:g.112827163_112827166del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112827163_112827166del , CM000667.2:g.112827163_112827166del	GRCh38
NC_000005.9:g.112162860_112162863del , CM000667.1:g.112162860_112162863del	GRCh37
NC_000005.8:g.112190759_112190762del	NCBI36
NG_008481.4:g.139643_139646del , LRG_130:g.139643_139646del

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1408+5172_1408+5175del	ENSP00000484935.2:n.1408+5172_1408+5175de...
ENST00000504915.3:c.1518_1521del	ENSP00000473355.2:p.Thr507MetfsTer8
ENST00000505084.2:n.1520_1523del
ENST00000505350.2:c.*1470_*1473del	ENSP00000481752.1:n.*1470_*1473del
ENST00000507379.6:c.1410_1413del	ENSP00000423224.2:p.Thr471MetfsTer8
ENST00000509732.6:c.1464_1467del	ENSP00000426541.2:p.Thr489MetfsTer8
ENST00000512211.7:c.1464_1467del	ENSP00000423828.3:p.Thr489MetfsTer8
ENST00000257430.9:c.1464_1467del MANE Select	ENSP00000257430.4:p.Thr489MetfsTer8
ENST00000257430.8:c.1464_1467del	ENSP00000257430.4:p.Thr489MetfsTer8
ENST00000502371.2:c.96+5172_96+5175del
ENST00000504915.2:c.153_156del	ENSP00000473355.1:p.Thr52MetfsTer8
ENST00000507379.5:c.1410_1413del	ENSP00000423224.1:p.Thr471MetfsTer8
ENST00000508376.6:c.1464_1467del	ENSP00000427089.2:p.Thr489MetfsTer8
ENST00000508624.5:c.*786_*789del	ENSP00000424265.1:n.*786_*789del
ENST00000512211.6:c.1464_1467del	ENSP00000423828.2:p.Thr489MetfsTer8
NM_000038.5:c.1464_1467del	NP_000029.2:p.Thr489MetfsTer8
NM_001127510.2:c.1464_1467del	NP_001120982.1:p.Thr489MetfsTer8
NM_001127511.2:c.1410_1413del	NP_001120983.2:p.Thr471MetfsTer8
NM_001354895.1:c.1464_1467del	NP_001341824.1:p.Thr489MetfsTer8
NM_001354896.1:c.1518_1521del	NP_001341825.1:p.Thr507MetfsTer8
NM_001354897.1:c.1494_1497del	NP_001341826.1:p.Thr499MetfsTer8
NM_001354898.1:c.1389_1392del	NP_001341827.1:p.Thr464MetfsTer8
NM_001354899.1:c.1380_1383del	NP_001341828.1:p.Thr461MetfsTer8
NM_001354900.1:c.1341_1344del	NP_001341829.1:p.Thr448MetfsTer8
NM_001354901.1:c.1287_1290del	NP_001341830.1:p.Thr430MetfsTer8
NM_001354902.1:c.1191_1194del	NP_001341831.1:p.Thr398MetfsTer8
NM_001354903.1:c.1161_1164del	NP_001341832.1:p.Thr388MetfsTer8
NM_001354904.1:c.1086_1089del	NP_001341833.1:p.Thr363MetfsTer8
NM_001354905.1:c.984_987del	NP_001341834.1:p.Thr329MetfsTer8
NM_001354906.1:c.615_618del	NP_001341835.1:p.Thr206MetfsTer8
NM_000038.6:c.1464_1467del MANE Select	NP_000029.2:p.Thr489MetfsTer8
NM_001127510.3:c.1464_1467del	NP_001120982.1:p.Thr489MetfsTer8
NM_001127511.3:c.1410_1413del	NP_001120983.2:p.Thr471MetfsTer8
NM_001354895.2:c.1464_1467del	NP_001341824.1:p.Thr489MetfsTer8
NM_001354896.2:c.1518_1521del	NP_001341825.1:p.Thr507MetfsTer8
NM_001354897.2:c.1494_1497del	NP_001341826.1:p.Thr499MetfsTer8
NM_001354898.2:c.1389_1392del	NP_001341827.1:p.Thr464MetfsTer8
NM_001354899.2:c.1380_1383del	NP_001341828.1:p.Thr461MetfsTer8
NM_001354900.2:c.1341_1344del	NP_001341829.1:p.Thr448MetfsTer8
NM_001354901.2:c.1287_1290del	NP_001341830.1:p.Thr430MetfsTer8
NM_001354902.2:c.1191_1194del	NP_001341831.1:p.Thr398MetfsTer8
NM_001354903.2:c.1161_1164del	NP_001341832.1:p.Thr388MetfsTer8
NM_001354904.2:c.1086_1089del	NP_001341833.1:p.Thr363MetfsTer8
NM_001354905.2:c.984_987del	NP_001341834.1:p.Thr329MetfsTer8
NM_001354906.2:c.615_618del	NP_001341835.1:p.Thr206MetfsTer8