Canonical Allele Identifier: CA445963903

Gene: APC

Linked Data

• ClinVar Variation Id: 2584034
• ClinVar RCV Id: RCV003334956
• COSMIC: COSM18857
• MyVariant Identifiers: chr5:g.112175223_112175224insT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839527dup , CM000667.2:g.112839527dup	GRCh38
NC_000005.9:g.112175224dup , CM000667.1:g.112175224dup	GRCh37
NC_000005.8:g.112203123dup	NCBI36
NG_008481.4:g.152007dup , LRG_130:g.152007dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.3598dup	ENSP00000484935.2:n.3598dup
ENST00000504915.3:c.3987dup	ENSP00000473355.2:p.Gly1330TrpfsTer3
ENST00000505350.2:c.*3939dup	ENSP00000481752.1:n.*3939dup
ENST00000507379.6:c.3879dup	ENSP00000423224.2:p.Gly1294TrpfsTer3
ENST00000509732.6:c.3933dup	ENSP00000426541.2:p.Gly1312TrpfsTer3
ENST00000512211.7:c.3933dup	ENSP00000423828.3:p.Gly1312TrpfsTer3
ENST00000257430.9:c.3933dup MANE Select	ENSP00000257430.4:p.Gly1312TrpfsTer3
ENST00000257430.8:c.3933dup	ENSP00000257430.4:p.Gly1312TrpfsTer3
ENST00000502371.2:c.2286dup
ENST00000508376.6:c.3933dup	ENSP00000427089.2:p.Gly1312TrpfsTer3
ENST00000508624.5:c.*3255dup	ENSP00000424265.1:n.*3255dup
ENST00000520401.1:c.230+10555dup
NM_000038.5:c.3933dup	NP_000029.2:p.Gly1312TrpfsTer3
NM_001127510.2:c.3933dup	NP_001120982.1:p.Gly1312TrpfsTer3
NM_001127511.2:c.3879dup	NP_001120983.2:p.Gly1294TrpfsTer3
NM_001354895.1:c.3933dup	NP_001341824.1:p.Gly1312TrpfsTer3
NM_001354896.1:c.3987dup	NP_001341825.1:p.Gly1330TrpfsTer3
NM_001354897.1:c.3963dup	NP_001341826.1:p.Gly1322TrpfsTer3
NM_001354898.1:c.3858dup	NP_001341827.1:p.Gly1287TrpfsTer3
NM_001354899.1:c.3849dup	NP_001341828.1:p.Gly1284TrpfsTer3
NM_001354900.1:c.3810dup	NP_001341829.1:p.Gly1271TrpfsTer3
NM_001354901.1:c.3756dup	NP_001341830.1:p.Gly1253TrpfsTer3
NM_001354902.1:c.3660dup	NP_001341831.1:p.Gly1221TrpfsTer3
NM_001354903.1:c.3630dup	NP_001341832.1:p.Gly1211TrpfsTer3
NM_001354904.1:c.3555dup	NP_001341833.1:p.Gly1186TrpfsTer3
NM_001354905.1:c.3453dup	NP_001341834.1:p.Gly1152TrpfsTer3
NM_001354906.1:c.3084dup	NP_001341835.1:p.Gly1029TrpfsTer3
NM_000038.6:c.3933dup MANE Select	NP_000029.2:p.Gly1312TrpfsTer3
NM_001127510.3:c.3933dup	NP_001120982.1:p.Gly1312TrpfsTer3
NM_001127511.3:c.3879dup	NP_001120983.2:p.Gly1294TrpfsTer3
NM_001354895.2:c.3933dup	NP_001341824.1:p.Gly1312TrpfsTer3
NM_001354896.2:c.3987dup	NP_001341825.1:p.Gly1330TrpfsTer3
NM_001354897.2:c.3963dup	NP_001341826.1:p.Gly1322TrpfsTer3
NM_001354898.2:c.3858dup	NP_001341827.1:p.Gly1287TrpfsTer3
NM_001354899.2:c.3849dup	NP_001341828.1:p.Gly1284TrpfsTer3
NM_001354900.2:c.3810dup	NP_001341829.1:p.Gly1271TrpfsTer3
NM_001354901.2:c.3756dup	NP_001341830.1:p.Gly1253TrpfsTer3
NM_001354902.2:c.3660dup	NP_001341831.1:p.Gly1221TrpfsTer3
NM_001354903.2:c.3630dup	NP_001341832.1:p.Gly1211TrpfsTer3
NM_001354904.2:c.3555dup	NP_001341833.1:p.Gly1186TrpfsTer3
NM_001354905.2:c.3453dup	NP_001341834.1:p.Gly1152TrpfsTer3
NM_001354906.2:c.3084dup	NP_001341835.1:p.Gly1029TrpfsTer3