Canonical Allele Identifier: CA2499217438
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 1050626
ClinVar RCV Id: RCV001358278
dbSNP Id: rs2149808357

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112827106_112827326del , CM000667.2:g.112827106_112827326del GRCh38
NC_000005.9:g.112162803_112163023del , CM000667.1:g.112162803_112163023del GRCh37
NC_000005.8:g.112190702_112190922del NCBI36
NG_008481.4:g.139586_139806del , LRG_130:g.139586_139806del

Transcript Alleles

HGVS Amino-acid change
ENST00000502371.3:c.1408+5115_1408+5335del ENSP00000484935.2:n.1408+5115_1408+5335de...
ENST00000504915.3:c.1463-2_1602+79del
ENST00000505084.2:n.1465-2_1604+79del
ENST00000505350.2:c.*1415-2_*1554+79del
ENST00000507379.6:c.1355-2_1494+79del
ENST00000509732.6:c.1409-2_1548+79del
ENST00000512211.7:c.1409-2_1548+79del
ENST00000257430.9:c.1409-2_1548+79del
ENST00000257430.8:c.1409-2_1548+79del
ENST00000502371.2:c.96+5115_96+5335del
ENST00000504915.2:c.98-2_237+79del
ENST00000507379.5:c.1355-2_1494+79del
ENST00000508376.6:c.1409-2_1548+79del
ENST00000508624.5:c.*731-2_*870+79del
ENST00000512211.6:c.1409-2_1548+79del
NM_000038.5:c.1409-2_1548+79del
NM_001127510.2:c.1409-2_1548+79del
NM_001127511.2:c.1355-2_1494+79del
NM_001354895.1:c.1409-2_1548+79del
NM_001354896.1:c.1463-2_1602+79del
NM_001354897.1:c.1439-2_1578+79del
NM_001354898.1:c.1334-2_1473+79del
NM_001354899.1:c.1325-2_1464+79del
NM_001354900.1:c.1286-2_1425+79del
NM_001354901.1:c.1232-2_1371+79del
NM_001354902.1:c.1136-2_1275+79del
NM_001354903.1:c.1106-2_1245+79del
NM_001354904.1:c.1031-2_1170+79del
NM_001354905.1:c.929-2_1068+79del
NM_001354906.1:c.560-2_699+79del
NM_000038.6:c.1409-2_1548+79del
NM_001127510.3:c.1409-2_1548+79del
NM_001127511.3:c.1355-2_1494+79del
NM_001354895.2:c.1409-2_1548+79del
NM_001354896.2:c.1463-2_1602+79del
NM_001354897.2:c.1439-2_1578+79del
NM_001354898.2:c.1334-2_1473+79del
NM_001354899.2:c.1325-2_1464+79del
NM_001354900.2:c.1286-2_1425+79del
NM_001354901.2:c.1232-2_1371+79del
NM_001354902.2:c.1136-2_1275+79del
NM_001354903.2:c.1106-2_1245+79del
NM_001354904.2:c.1031-2_1170+79del
NM_001354905.2:c.929-2_1068+79del
NM_001354906.2:c.560-2_699+79del