Canonical Allele Identifier: CA891841968

Gene: APC

Linked Data

• ClinVar Variation Id: 664418
• ClinVar RCV Id: RCV003128714 ; RCV002336713 ; RCV003537296 ; RCV002535953
• dbSNP Id: rs1580653770

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840485_112840488del , CM000667.2:g.112840485_112840488del	GRCh38
NC_000005.9:g.112176182_112176185del , CM000667.1:g.112176182_112176185del	GRCh37
NC_000005.8:g.112204081_112204084del	NCBI36
NG_008481.4:g.152965_152968del , LRG_130:g.152965_152968del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4945_4948del	ENSP00000473355.2:p.Ser1649LeufsTer18
ENST00000505350.2:c.*4897_*4900del	ENSP00000481752.1:n.*4897_*4900del
ENST00000507379.6:c.4837_4840del	ENSP00000423224.2:p.Ser1613LeufsTer18
ENST00000509732.6:c.4891_4894del	ENSP00000426541.2:p.Ser1631LeufsTer18
ENST00000512211.7:c.4891_4894del	ENSP00000423828.3:p.Ser1631LeufsTer18
ENST00000257430.9:c.4891_4894del MANE Select	ENSP00000257430.4:p.Ser1631LeufsTer18
ENST00000257430.8:c.4891_4894del	ENSP00000257430.4:p.Ser1631LeufsTer18
ENST00000508376.6:c.4891_4894del	ENSP00000427089.2:p.Ser1631LeufsTer18
ENST00000508624.5:c.*4213_*4216del	ENSP00000424265.1:n.*4213_*4216del
ENST00000520401.1:c.230+11513_230+11516del
NM_000038.5:c.4891_4894del	NP_000029.2:p.Ser1631LeufsTer18
NM_001127510.2:c.4891_4894del	NP_001120982.1:p.Ser1631LeufsTer18
NM_001127511.2:c.4837_4840del	NP_001120983.2:p.Ser1613LeufsTer18
NM_001354895.1:c.4891_4894del	NP_001341824.1:p.Ser1631LeufsTer18
NM_001354896.1:c.4945_4948del	NP_001341825.1:p.Ser1649LeufsTer18
NM_001354897.1:c.4921_4924del	NP_001341826.1:p.Ser1641LeufsTer18
NM_001354898.1:c.4816_4819del	NP_001341827.1:p.Ser1606LeufsTer18
NM_001354899.1:c.4807_4810del	NP_001341828.1:p.Ser1603LeufsTer18
NM_001354900.1:c.4768_4771del	NP_001341829.1:p.Ser1590LeufsTer18
NM_001354901.1:c.4714_4717del	NP_001341830.1:p.Ser1572LeufsTer18
NM_001354902.1:c.4618_4621del	NP_001341831.1:p.Ser1540LeufsTer18
NM_001354903.1:c.4588_4591del	NP_001341832.1:p.Ser1530LeufsTer18
NM_001354904.1:c.4513_4516del	NP_001341833.1:p.Ser1505LeufsTer18
NM_001354905.1:c.4411_4414del	NP_001341834.1:p.Ser1471LeufsTer18
NM_001354906.1:c.4042_4045del	NP_001341835.1:p.Ser1348LeufsTer18
NM_000038.6:c.4891_4894del MANE Select	NP_000029.2:p.Ser1631LeufsTer18
NM_001127510.3:c.4891_4894del	NP_001120982.1:p.Ser1631LeufsTer18
NM_001127511.3:c.4837_4840del	NP_001120983.2:p.Ser1613LeufsTer18
NM_001354895.2:c.4891_4894del	NP_001341824.1:p.Ser1631LeufsTer18
NM_001354896.2:c.4945_4948del	NP_001341825.1:p.Ser1649LeufsTer18
NM_001354897.2:c.4921_4924del	NP_001341826.1:p.Ser1641LeufsTer18
NM_001354898.2:c.4816_4819del	NP_001341827.1:p.Ser1606LeufsTer18
NM_001354899.2:c.4807_4810del	NP_001341828.1:p.Ser1603LeufsTer18
NM_001354900.2:c.4768_4771del	NP_001341829.1:p.Ser1590LeufsTer18
NM_001354901.2:c.4714_4717del	NP_001341830.1:p.Ser1572LeufsTer18
NM_001354902.2:c.4618_4621del	NP_001341831.1:p.Ser1540LeufsTer18
NM_001354903.2:c.4588_4591del	NP_001341832.1:p.Ser1530LeufsTer18
NM_001354904.2:c.4513_4516del	NP_001341833.1:p.Ser1505LeufsTer18
NM_001354905.2:c.4411_4414del	NP_001341834.1:p.Ser1471LeufsTer18
NM_001354906.2:c.4042_4045del	NP_001341835.1:p.Ser1348LeufsTer18