Canonical Allele Identifier: CA1139658990
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 954250
ClinVar RCV Id: RCV003650785
dbSNP Id: rs1763163846

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112821887_112821888del , CM000667.2:g.112821887_112821888del GRCh38
NC_000005.9:g.112157584_112157585del , CM000667.1:g.112157584_112157585del GRCh37
NC_000005.8:g.112185483_112185484del NCBI36
NG_008481.4:g.134367_134368del , LRG_130:g.134367_134368del

Transcript Alleles

HGVS Amino-acid Change
ENST00000502371.3:c.1313-9_1313-8del ENSP00000484935.2:n.1313-9_1313-8del
ENST00000504915.3:c.1313-9_1313-8del ENSP00000473355.2:n.1313-9_1313-8del
ENST00000505084.2:n.1369-9_1369-8del
ENST00000505350.2:c.*1319-9_*1319-8del ENSP00000481752.1:n.*1319-9_*1319-8del
ENST00000507379.6:c.1259-9_1259-8del ENSP00000423224.2:n.1259-9_1259-8del
ENST00000509732.6:c.1313-9_1313-8del ENSP00000426541.2:n.1313-9_1313-8del
ENST00000512211.7:c.1313-9_1313-8del ENSP00000423828.3:n.1313-9_1313-8del
ENST00000257430.9:c.1313-9_1313-8del MANE Select ENSP00000257430.4:n.1313-9_1313-8del
ENST00000257430.8:c.1313-9_1313-8del ENSP00000257430.4:n.1313-9_1313-8del
ENST00000507379.5:c.1259-9_1259-8del ENSP00000423224.1:n.1259-9_1259-8del
ENST00000508376.6:c.1313-9_1313-8del ENSP00000427089.2:n.1313-9_1313-8del
ENST00000508624.5:c.*635-9_*635-8del ENSP00000424265.1:n.*635-9_*635-8del
ENST00000512211.6:c.1313-9_1313-8del ENSP00000423828.2:n.1313-9_1313-8del
NM_000038.5:c.1313-9_1313-8del NP_000029.2:n.1313-9_1313-8del
NM_001127510.2:c.1313-9_1313-8del NP_001120982.1:n.1313-9_1313-8del
NM_001127511.2:c.1259-9_1259-8del NP_001120983.2:n.1259-9_1259-8del
NM_001354895.1:c.1313-9_1313-8del NP_001341824.1:n.1313-9_1313-8del
NM_001354896.1:c.1313-9_1313-8del NP_001341825.1:n.1313-9_1313-8del
NM_001354897.1:c.1343-9_1343-8del NP_001341826.1:n.1343-9_1343-8del
NM_001354898.1:c.1238-9_1238-8del NP_001341827.1:n.1238-9_1238-8del
NM_001354899.1:c.1229-9_1229-8del NP_001341828.1:n.1229-9_1229-8del
NM_001354900.1:c.1136-9_1136-8del NP_001341829.1:n.1136-9_1136-8del
NM_001354901.1:c.1136-9_1136-8del NP_001341830.1:n.1136-9_1136-8del
NM_001354902.1:c.1040-9_1040-8del NP_001341831.1:n.1040-9_1040-8del
NM_001354903.1:c.1010-9_1010-8del NP_001341832.1:n.1010-9_1010-8del
NM_001354904.1:c.935-9_935-8del NP_001341833.1:n.935-9_935-8del
NM_001354905.1:c.833-9_833-8del NP_001341834.1:n.833-9_833-8del
NM_001354906.1:c.464-9_464-8del NP_001341835.1:n.464-9_464-8del
NM_000038.6:c.1313-9_1313-8del MANE Select NP_000029.2:n.1313-9_1313-8del
NM_001127510.3:c.1313-9_1313-8del NP_001120982.1:n.1313-9_1313-8del
NM_001127511.3:c.1259-9_1259-8del NP_001120983.2:n.1259-9_1259-8del
NM_001354895.2:c.1313-9_1313-8del NP_001341824.1:n.1313-9_1313-8del
NM_001354896.2:c.1313-9_1313-8del NP_001341825.1:n.1313-9_1313-8del
NM_001354897.2:c.1343-9_1343-8del NP_001341826.1:n.1343-9_1343-8del
NM_001354898.2:c.1238-9_1238-8del NP_001341827.1:n.1238-9_1238-8del
NM_001354899.2:c.1229-9_1229-8del NP_001341828.1:n.1229-9_1229-8del
NM_001354900.2:c.1136-9_1136-8del NP_001341829.1:n.1136-9_1136-8del
NM_001354901.2:c.1136-9_1136-8del NP_001341830.1:n.1136-9_1136-8del
NM_001354902.2:c.1040-9_1040-8del NP_001341831.1:n.1040-9_1040-8del
NM_001354903.2:c.1010-9_1010-8del NP_001341832.1:n.1010-9_1010-8del
NM_001354904.2:c.935-9_935-8del NP_001341833.1:n.935-9_935-8del
NM_001354905.2:c.833-9_833-8del NP_001341834.1:n.833-9_833-8del
NM_001354906.2:c.464-9_464-8del NP_001341835.1:n.464-9_464-8del