Canonical Allele Identifier: CA658655948

Gene: APC

Linked Data

• ClinVar Variation Id: 487406
• ClinVar RCV Id: RCV000576849
• dbSNP Id: rs1554086015
• MyVariant Identifiers: chr5:g.112175910_112175911del (hg19) ; chr5:g.112840213_112840214del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840213_112840214del , CM000667.2:g.112840213_112840214del	GRCh38
NC_000005.9:g.112175910_112175911del , CM000667.1:g.112175910_112175911del	GRCh37
NC_000005.8:g.112203809_112203810del	NCBI36
NG_008481.4:g.152693_152694del , LRG_130:g.152693_152694del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4673_4674del	ENSP00000473355.2:p.Glu1558AlafsTer3
ENST00000505350.2:c.*4625_*4626del	ENSP00000481752.1:n.*4625_*4626del
ENST00000507379.6:c.4565_4566del	ENSP00000423224.2:p.Glu1522AlafsTer3
ENST00000509732.6:c.4619_4620del	ENSP00000426541.2:p.Glu1540AlafsTer3
ENST00000512211.7:c.4619_4620del	ENSP00000423828.3:p.Glu1540AlafsTer3
ENST00000257430.9:c.4619_4620del MANE Select	ENSP00000257430.4:p.Glu1540AlafsTer3
ENST00000257430.8:c.4619_4620del	ENSP00000257430.4:p.Glu1540AlafsTer3
ENST00000508376.6:c.4619_4620del	ENSP00000427089.2:p.Glu1540AlafsTer3
ENST00000508624.5:c.*3941_*3942del	ENSP00000424265.1:n.*3941_*3942del
ENST00000520401.1:c.230+11241_230+11242del
NM_000038.5:c.4619_4620del	NP_000029.2:p.Glu1540AlafsTer3
NM_001127510.2:c.4619_4620del	NP_001120982.1:p.Glu1540AlafsTer3
NM_001127511.2:c.4565_4566del	NP_001120983.2:p.Glu1522AlafsTer3
NM_001354895.1:c.4619_4620del	NP_001341824.1:p.Glu1540AlafsTer3
NM_001354896.1:c.4673_4674del	NP_001341825.1:p.Glu1558AlafsTer3
NM_001354897.1:c.4649_4650del	NP_001341826.1:p.Glu1550AlafsTer3
NM_001354898.1:c.4544_4545del	NP_001341827.1:p.Glu1515AlafsTer3
NM_001354899.1:c.4535_4536del	NP_001341828.1:p.Glu1512AlafsTer3
NM_001354900.1:c.4496_4497del	NP_001341829.1:p.Glu1499AlafsTer3
NM_001354901.1:c.4442_4443del	NP_001341830.1:p.Glu1481AlafsTer3
NM_001354902.1:c.4346_4347del	NP_001341831.1:p.Glu1449AlafsTer3
NM_001354903.1:c.4316_4317del	NP_001341832.1:p.Glu1439AlafsTer3
NM_001354904.1:c.4241_4242del	NP_001341833.1:p.Glu1414AlafsTer3
NM_001354905.1:c.4139_4140del	NP_001341834.1:p.Glu1380AlafsTer3
NM_001354906.1:c.3770_3771del	NP_001341835.1:p.Glu1257AlafsTer3
NM_000038.6:c.4619_4620del MANE Select	NP_000029.2:p.Glu1540AlafsTer3
NM_001127510.3:c.4619_4620del	NP_001120982.1:p.Glu1540AlafsTer3
NM_001127511.3:c.4565_4566del	NP_001120983.2:p.Glu1522AlafsTer3
NM_001354895.2:c.4619_4620del	NP_001341824.1:p.Glu1540AlafsTer3
NM_001354896.2:c.4673_4674del	NP_001341825.1:p.Glu1558AlafsTer3
NM_001354897.2:c.4649_4650del	NP_001341826.1:p.Glu1550AlafsTer3
NM_001354898.2:c.4544_4545del	NP_001341827.1:p.Glu1515AlafsTer3
NM_001354899.2:c.4535_4536del	NP_001341828.1:p.Glu1512AlafsTer3
NM_001354900.2:c.4496_4497del	NP_001341829.1:p.Glu1499AlafsTer3
NM_001354901.2:c.4442_4443del	NP_001341830.1:p.Glu1481AlafsTer3
NM_001354902.2:c.4346_4347del	NP_001341831.1:p.Glu1449AlafsTer3
NM_001354903.2:c.4316_4317del	NP_001341832.1:p.Glu1439AlafsTer3
NM_001354904.2:c.4241_4242del	NP_001341833.1:p.Glu1414AlafsTer3
NM_001354905.2:c.4139_4140del	NP_001341834.1:p.Glu1380AlafsTer3
NM_001354906.2:c.3770_3771del	NP_001341835.1:p.Glu1257AlafsTer3