Canonical Allele Identifier: CA2582341258

Gene: APC

Linked Data

• ClinVar Variation Id: 2583898
• ClinVar RCV Id: RCV003334820

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112819229_112819230del , CM000667.2:g.112819229_112819230del	GRCh38
NC_000005.9:g.112154926_112154927del , CM000667.1:g.112154926_112154927del	GRCh37
NC_000005.8:g.112182825_112182826del	NCBI36
NG_008481.4:g.131709_131710del , LRG_130:g.131709_131710del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1197_1198del	ENSP00000484935.2:p.Gly400GlnfsTer3
ENST00000504915.3:c.1197_1198del	ENSP00000473355.2:p.Gly400GlnfsTer3
ENST00000505084.2:n.1253_1254del
ENST00000505350.2:c.*1203_*1204del	ENSP00000481752.1:n.*1203_*1204del
ENST00000507379.6:c.1143_1144del	ENSP00000423224.2:p.Gly382GlnfsTer3
ENST00000509732.6:c.1197_1198del	ENSP00000426541.2:p.Gly400GlnfsTer3
ENST00000512211.7:c.1197_1198del	ENSP00000423828.3:p.Gly400GlnfsTer3
ENST00000257430.9:c.1197_1198del MANE Select	ENSP00000257430.4:p.Gly400GlnfsTer3
ENST00000257430.8:c.1197_1198del	ENSP00000257430.4:p.Gly400GlnfsTer3
ENST00000507379.5:c.1143_1144del	ENSP00000423224.1:p.Gly382GlnfsTer3
ENST00000508376.6:c.1197_1198del	ENSP00000427089.2:p.Gly400GlnfsTer3
ENST00000508624.5:c.*519_*520del	ENSP00000424265.1:n.*519_*520del
ENST00000512211.6:c.1197_1198del	ENSP00000423828.2:p.Gly400GlnfsTer3
NM_000038.5:c.1197_1198del	NP_000029.2:p.Gly400GlnfsTer3
NM_001127510.2:c.1197_1198del	NP_001120982.1:p.Gly400GlnfsTer3
NM_001127511.2:c.1143_1144del	NP_001120983.2:p.Gly382GlnfsTer3
NM_001354895.1:c.1197_1198del	NP_001341824.1:p.Gly400GlnfsTer3
NM_001354896.1:c.1197_1198del	NP_001341825.1:p.Gly400GlnfsTer3
NM_001354897.1:c.1227_1228del	NP_001341826.1:p.Gly410GlnfsTer3
NM_001354898.1:c.1122_1123del	NP_001341827.1:p.Gly375GlnfsTer3
NM_001354899.1:c.1113_1114del	NP_001341828.1:p.Gly372GlnfsTer3
NM_001354900.1:c.1020_1021del	NP_001341829.1:p.Gly341GlnfsTer3
NM_001354901.1:c.1020_1021del	NP_001341830.1:p.Gly341GlnfsTer3
NM_001354902.1:c.964-40_964-39del	NP_001341831.1:n.964-40_964-39del
NM_001354903.1:c.934-40_934-39del	NP_001341832.1:n.934-40_934-39del
NM_001354904.1:c.859-40_859-39del	NP_001341833.1:n.859-40_859-39del
NM_001354905.1:c.757-40_757-39del	NP_001341834.1:n.757-40_757-39del
NM_001354906.1:c.348_349del	NP_001341835.1:p.Gly117GlnfsTer3
NM_000038.6:c.1197_1198del MANE Select	NP_000029.2:p.Gly400GlnfsTer3
NM_001127510.3:c.1197_1198del	NP_001120982.1:p.Gly400GlnfsTer3
NM_001127511.3:c.1143_1144del	NP_001120983.2:p.Gly382GlnfsTer3
NM_001354895.2:c.1197_1198del	NP_001341824.1:p.Gly400GlnfsTer3
NM_001354896.2:c.1197_1198del	NP_001341825.1:p.Gly400GlnfsTer3
NM_001354897.2:c.1227_1228del	NP_001341826.1:p.Gly410GlnfsTer3
NM_001354898.2:c.1122_1123del	NP_001341827.1:p.Gly375GlnfsTer3
NM_001354899.2:c.1113_1114del	NP_001341828.1:p.Gly372GlnfsTer3
NM_001354900.2:c.1020_1021del	NP_001341829.1:p.Gly341GlnfsTer3
NM_001354901.2:c.1020_1021del	NP_001341830.1:p.Gly341GlnfsTer3
NM_001354902.2:c.964-40_964-39del	NP_001341831.1:n.964-40_964-39del
NM_001354903.2:c.934-40_934-39del	NP_001341832.1:n.934-40_934-39del
NM_001354904.2:c.859-40_859-39del	NP_001341833.1:n.859-40_859-39del
NM_001354905.2:c.757-40_757-39del	NP_001341834.1:n.757-40_757-39del
NM_001354906.2:c.348_349del	NP_001341835.1:p.Gly117GlnfsTer3