Canonical Allele Identifier: CA915942596

Gene: APC

Linked Data

• ClinVar Variation Id: 650783
• ClinVar RCV Id: RCV000806005 ; RCV003535960
• dbSNP Id: rs1580530928

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112819273_112819278delinsA , CM000667.2:g.112819273_112819278delinsA	GRCh38
NC_000005.9:g.112154970_112154975delinsA , CM000667.1:g.112154970_112154975delinsA	GRCh37
NC_000005.8:g.112182869_112182874delinsA	NCBI36
NG_008481.4:g.131753_131758delinsA , LRG_130:g.131753_131758delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1241_1246delinsA	ENSP00000484935.2:p.Arg414GlnfsTer3
ENST00000504915.3:c.1241_1246delinsA	ENSP00000473355.2:p.Arg414GlnfsTer3
ENST00000505084.2:n.1297_1302delinsA
ENST00000505350.2:c.*1247_*1252delinsA	ENSP00000481752.1:n.*1247_*1252delinsA
ENST00000507379.6:c.1187_1192delinsA	ENSP00000423224.2:p.Arg396GlnfsTer3
ENST00000509732.6:c.1241_1246delinsA	ENSP00000426541.2:p.Arg414GlnfsTer3
ENST00000512211.7:c.1241_1246delinsA	ENSP00000423828.3:p.Arg414GlnfsTer3
ENST00000257430.9:c.1241_1246delinsA MANE Select	ENSP00000257430.4:p.Arg414GlnfsTer3
ENST00000257430.8:c.1241_1246delinsA	ENSP00000257430.4:p.Arg414GlnfsTer3
ENST00000507379.5:c.1187_1192delinsA	ENSP00000423224.1:p.Arg396GlnfsTer3
ENST00000508376.6:c.1241_1246delinsA	ENSP00000427089.2:p.Arg414GlnfsTer3
ENST00000508624.5:c.*563_*568delinsA	ENSP00000424265.1:n.*563_*568delinsA
ENST00000512211.6:c.1241_1246delinsA	ENSP00000423828.2:p.Arg414GlnfsTer3
NM_000038.5:c.1241_1246delinsA	NP_000029.2:p.Arg414GlnfsTer3
NM_001127510.2:c.1241_1246delinsA	NP_001120982.1:p.Arg414GlnfsTer3
NM_001127511.2:c.1187_1192delinsA	NP_001120983.2:p.Arg396GlnfsTer3
NM_001354895.1:c.1241_1246delinsA	NP_001341824.1:p.Arg414GlnfsTer3
NM_001354896.1:c.1241_1246delinsA	NP_001341825.1:p.Arg414GlnfsTer3
NM_001354897.1:c.1271_1276delinsA	NP_001341826.1:p.Arg424GlnfsTer3
NM_001354898.1:c.1166_1171delinsA	NP_001341827.1:p.Arg389GlnfsTer3
NM_001354899.1:c.1157_1162delinsA	NP_001341828.1:p.Arg386GlnfsTer3
NM_001354900.1:c.1064_1069delinsA	NP_001341829.1:p.Arg355GlnfsTer3
NM_001354901.1:c.1064_1069delinsA	NP_001341830.1:p.Arg355GlnfsTer3
NM_001354902.1:c.968_973delinsA	NP_001341831.1:p.Arg323GlnfsTer3
NM_001354903.1:c.938_943delinsA	NP_001341832.1:p.Arg313GlnfsTer3
NM_001354904.1:c.863_868delinsA	NP_001341833.1:p.Arg288GlnfsTer3
NM_001354905.1:c.761_766delinsA	NP_001341834.1:p.Arg254GlnfsTer3
NM_001354906.1:c.392_397delinsA	NP_001341835.1:p.Arg131GlnfsTer3
NM_000038.6:c.1241_1246delinsA MANE Select	NP_000029.2:p.Arg414GlnfsTer3
NM_001127510.3:c.1241_1246delinsA	NP_001120982.1:p.Arg414GlnfsTer3
NM_001127511.3:c.1187_1192delinsA	NP_001120983.2:p.Arg396GlnfsTer3
NM_001354895.2:c.1241_1246delinsA	NP_001341824.1:p.Arg414GlnfsTer3
NM_001354896.2:c.1241_1246delinsA	NP_001341825.1:p.Arg414GlnfsTer3
NM_001354897.2:c.1271_1276delinsA	NP_001341826.1:p.Arg424GlnfsTer3
NM_001354898.2:c.1166_1171delinsA	NP_001341827.1:p.Arg389GlnfsTer3
NM_001354899.2:c.1157_1162delinsA	NP_001341828.1:p.Arg386GlnfsTer3
NM_001354900.2:c.1064_1069delinsA	NP_001341829.1:p.Arg355GlnfsTer3
NM_001354901.2:c.1064_1069delinsA	NP_001341830.1:p.Arg355GlnfsTer3
NM_001354902.2:c.968_973delinsA	NP_001341831.1:p.Arg323GlnfsTer3
NM_001354903.2:c.938_943delinsA	NP_001341832.1:p.Arg313GlnfsTer3
NM_001354904.2:c.863_868delinsA	NP_001341833.1:p.Arg288GlnfsTer3
NM_001354905.2:c.761_766delinsA	NP_001341834.1:p.Arg254GlnfsTer3
NM_001354906.2:c.392_397delinsA	NP_001341835.1:p.Arg131GlnfsTer3