Canonical Allele Identifier: CA445757375
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 469717
ClinVar RCV Id: RCV000547736
dbSNP Id: rs1554082091

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112828872del , CM000667.2:g.112828872del GRCh38
NC_000005.9:g.112164569del , CM000667.1:g.112164569del GRCh37
NC_000005.8:g.112192468del NCBI36
NG_008481.4:g.141352del , LRG_130:g.141352del

Transcript Alleles

HGVS Amino-acid change
ENST00000257430.9:c.1643del MANE Select ENSP00000257430.4:p.Leu548Ter
ENST00000257430.8:c.1643del ENSP00000257430.4:p.Leu548Ter
ENST00000502371.2:n.97-6079del
ENST00000504915.2:n.332del ENSP00000473355.1:p.Leu111Ter
ENST00000505084.1:n.130del
ENST00000507379.5:c.1589del ENSP00000423224.1:p.Leu530Ter
ENST00000508376.6:c.1643del ENSP00000427089.2:p.Leu548Ter
ENST00000508624.5:c.*965del ENSP00000424265.1:n.*965del
ENST00000512211.6:c.1643del ENSP00000423828.2:p.Leu548Ter
ENST00000520401.1:n.130del
NM_000038.5:c.1643del NP_000029.2:p.Leu548Ter
NM_001127510.2:c.1643del NP_001120982.1:p.Leu548Ter
NM_001127511.2:c.1589del NP_001120983.2:p.Leu530Ter
NM_001354895.1:c.1643del NP_001341824.1:p.Leu548Ter
NM_001354896.1:c.1697del NP_001341825.1:p.Leu566Ter
NM_001354897.1:c.1673del NP_001341826.1:p.Leu558Ter
NM_001354898.1:c.1568del NP_001341827.1:p.Leu523Ter
NM_001354899.1:c.1559del NP_001341828.1:p.Leu520Ter
NM_001354900.1:c.1520del NP_001341829.1:p.Leu507Ter
NM_001354901.1:c.1466del NP_001341830.1:p.Leu489Ter
NM_001354902.1:c.1370del NP_001341831.1:p.Leu457Ter
NM_001354903.1:c.1340del NP_001341832.1:p.Leu447Ter
NM_001354904.1:c.1265del NP_001341833.1:p.Leu422Ter
NM_001354905.1:c.1163del NP_001341834.1:p.Leu388Ter
NM_001354906.1:c.794del NP_001341835.1:p.Leu265Ter
NM_000038.6:c.1643del MANE Select NP_000029.2:p.Leu548Ter
NM_001127510.3:c.1643del NP_001120982.1:p.Leu548Ter
NM_001127511.3:c.1589del NP_001120983.2:p.Leu530Ter
NM_001354895.2:c.1643del NP_001341824.1:p.Leu548Ter
NM_001354896.2:c.1697del NP_001341825.1:p.Leu566Ter
NM_001354897.2:c.1673del NP_001341826.1:p.Leu558Ter
NM_001354898.2:c.1568del NP_001341827.1:p.Leu523Ter
NM_001354899.2:c.1559del NP_001341828.1:p.Leu520Ter
NM_001354900.2:c.1520del NP_001341829.1:p.Leu507Ter
NM_001354901.2:c.1466del NP_001341830.1:p.Leu489Ter
NM_001354902.2:c.1370del NP_001341831.1:p.Leu457Ter
NM_001354903.2:c.1340del NP_001341832.1:p.Leu447Ter
NM_001354904.2:c.1265del NP_001341833.1:p.Leu422Ter
NM_001354905.2:c.1163del NP_001341834.1:p.Leu388Ter
NM_001354906.2:c.794del NP_001341835.1:p.Leu265Ter