Canonical Allele Identifier: CA915942594
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 822187
dbSNP Id: rs1580529312

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112819140_112819142del , CM000667.2:g.112819140_112819142del GRCh38
NC_000005.9:g.112154837_112154839del , CM000667.1:g.112154837_112154839del GRCh37
NC_000005.8:g.112182736_112182738del NCBI36
NG_008481.4:g.131620_131622del , LRG_130:g.131620_131622del

Transcript Alleles

HGVS Amino-acid Change
ENST00000502371.3:c.1108_1110del ENSP00000484935.2:p.Leu370del
ENST00000504915.3:c.1108_1110del ENSP00000473355.2:p.Leu370del
ENST00000505084.2:n.1164_1166del
ENST00000505350.2:c.*1114_*1116del ENSP00000481752.1:n.*1114_*1116del
ENST00000507379.6:c.1054_1056del ENSP00000423224.2:p.Leu352del
ENST00000509732.6:c.1108_1110del ENSP00000426541.2:p.Leu370del
ENST00000512211.7:c.1108_1110del ENSP00000423828.3:p.Leu370del
ENST00000257430.9:c.1108_1110del MANE Select ENSP00000257430.4:p.Leu370del
ENST00000257430.8:c.1108_1110del ENSP00000257430.4:p.Leu370del
ENST00000507379.5:c.1054_1056del ENSP00000423224.1:p.Leu352del
ENST00000508376.6:c.1108_1110del ENSP00000427089.2:p.Leu370del
ENST00000508624.5:c.*430_*432del ENSP00000424265.1:n.*430_*432del
ENST00000512211.6:c.1108_1110del ENSP00000423828.2:p.Leu370del
NM_000038.5:c.1108_1110del NP_000029.2:p.Leu370del
NM_001127510.2:c.1108_1110del NP_001120982.1:p.Leu370del
NM_001127511.2:c.1054_1056del NP_001120983.2:p.Leu352del
NM_001354895.1:c.1108_1110del NP_001341824.1:p.Leu370del
NM_001354896.1:c.1108_1110del NP_001341825.1:p.Leu370del
NM_001354897.1:c.1138_1140del NP_001341826.1:p.Leu380del
NM_001354898.1:c.1033_1035del NP_001341827.1:p.Leu345del
NM_001354899.1:c.1024_1026del NP_001341828.1:p.Leu342del
NM_001354900.1:c.931_933del NP_001341829.1:p.Leu311del
NM_001354901.1:c.931_933del NP_001341830.1:p.Leu311del
NM_001354902.1:c.964-129_964-127del NP_001341831.1:n.964-129_964-127del
NM_001354903.1:c.934-129_934-127del NP_001341832.1:n.934-129_934-127del
NM_001354904.1:c.859-129_859-127del NP_001341833.1:n.859-129_859-127del
NM_001354905.1:c.757-129_757-127del NP_001341834.1:n.757-129_757-127del
NM_001354906.1:c.259_261del NP_001341835.1:p.Leu87del
NM_000038.6:c.1108_1110del MANE Select NP_000029.2:p.Leu370del
NM_001127510.3:c.1108_1110del NP_001120982.1:p.Leu370del
NM_001127511.3:c.1054_1056del NP_001120983.2:p.Leu352del
NM_001354895.2:c.1108_1110del NP_001341824.1:p.Leu370del
NM_001354896.2:c.1108_1110del NP_001341825.1:p.Leu370del
NM_001354897.2:c.1138_1140del NP_001341826.1:p.Leu380del
NM_001354898.2:c.1033_1035del NP_001341827.1:p.Leu345del
NM_001354899.2:c.1024_1026del NP_001341828.1:p.Leu342del
NM_001354900.2:c.931_933del NP_001341829.1:p.Leu311del
NM_001354901.2:c.931_933del NP_001341830.1:p.Leu311del
NM_001354902.2:c.964-129_964-127del NP_001341831.1:n.964-129_964-127del
NM_001354903.2:c.934-129_934-127del NP_001341832.1:n.934-129_934-127del
NM_001354904.2:c.859-129_859-127del NP_001341833.1:n.859-129_859-127del
NM_001354905.2:c.757-129_757-127del NP_001341834.1:n.757-129_757-127del
NM_001354906.2:c.259_261del NP_001341835.1:p.Leu87del