Canonical Allele Identifier: CA2499217432
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 1050611
ClinVar RCV Id: RCV001358252

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112821894_112829116del , CM000667.2:g.112821894_112829116del GRCh38
NC_000005.9:g.112157591_112164813del , CM000667.1:g.112157591_112164813del GRCh37
NC_000005.8:g.112185490_112192712del NCBI36
NG_008481.4:g.134374_141596del , LRG_130:g.134374_141596del

Transcript Alleles

HGVS Amino-acid change
ENST00000502371.3:c.1313-2_1409-5835del
ENST00000504915.3:c.1313-2_1797+144del
ENST00000505084.2:n.1369-2_1943del
ENST00000505350.2:c.*1319-2_*1749+144del
ENST00000507379.6:c.1259-2_1689+144del
ENST00000509732.6:c.1313-2_1743+144del
ENST00000512211.7:c.1313-2_1743+144del
ENST00000257430.9:c.1313-2_1743+144del
ENST00000257430.8:c.1313-2_1743+144del
ENST00000507379.5:c.1259-2_1689+144del
ENST00000508376.6:c.1313-2_1743+144del
ENST00000508624.5:c.*635-2_*1065+144del
ENST00000512211.6:c.1313-2_1743+144del
NM_000038.5:c.1313-2_1743+144del
NM_001127510.2:c.1313-2_1743+144del
NM_001127511.2:c.1259-2_1689+144del
NM_001354895.1:c.1313-2_1743+144del
NM_001354896.1:c.1313-2_1797+144del
NM_001354897.1:c.1343-2_1773+144del
NM_001354898.1:c.1238-2_1668+144del
NM_001354899.1:c.1229-2_1659+144del
NM_001354900.1:c.1136-2_1620+144del
NM_001354901.1:c.1136-2_1566+144del
NM_001354902.1:c.1040-2_1470+144del
NM_001354903.1:c.1010-2_1440+144del
NM_001354904.1:c.935-2_1365+144del
NM_001354905.1:c.833-2_1263+144del
NM_001354906.1:c.464-2_894+144del
NM_000038.6:c.1313-2_1743+144del
NM_001127510.3:c.1313-2_1743+144del
NM_001127511.3:c.1259-2_1689+144del
NM_001354895.2:c.1313-2_1743+144del
NM_001354896.2:c.1313-2_1797+144del
NM_001354897.2:c.1343-2_1773+144del
NM_001354898.2:c.1238-2_1668+144del
NM_001354899.2:c.1229-2_1659+144del
NM_001354900.2:c.1136-2_1620+144del
NM_001354901.2:c.1136-2_1566+144del
NM_001354902.2:c.1040-2_1470+144del
NM_001354903.2:c.1010-2_1440+144del
NM_001354904.2:c.935-2_1365+144del
NM_001354905.2:c.833-2_1263+144del
NM_001354906.2:c.464-2_894+144del