Canonical Allele Identifier: CA2573138670
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 1437156
ClinVar RCV Id: RCV003745436
dbSNP Id: rs2149884247

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112838690del , CM000667.2:g.112838690del GRCh38
NC_000005.9:g.112174387del , CM000667.1:g.112174387del GRCh37
NC_000005.8:g.112202286del NCBI36
NG_008481.4:g.151170del , LRG_130:g.151170del

Transcript Alleles

HGVS Amino-acid Change
ENST00000502371.3:c.2761del ENSP00000484935.2:n.2761del
ENST00000504915.3:c.3150del ENSP00000473355.2:p.Asp1051MetfsTer4
ENST00000505350.2:c.*3102del ENSP00000481752.1:n.*3102del
ENST00000507379.6:c.3042del ENSP00000423224.2:p.Asp1015MetfsTer4
ENST00000509732.6:c.3096del ENSP00000426541.2:p.Asp1033MetfsTer4
ENST00000512211.7:c.3096del ENSP00000423828.3:p.Asp1033MetfsTer4
ENST00000257430.9:c.3096del MANE Select ENSP00000257430.4:p.Asp1033MetfsTer4
ENST00000257430.8:c.3096del ENSP00000257430.4:p.Asp1033MetfsTer4
ENST00000502371.2:c.1449del
ENST00000507379.5:c.3042del ENSP00000423224.1:p.Asp1015MetfsTer4
ENST00000508376.6:c.3096del ENSP00000427089.2:p.Asp1033MetfsTer4
ENST00000508624.5:c.*2418del ENSP00000424265.1:n.*2418del
ENST00000512211.6:c.3096del ENSP00000423828.2:p.Asp1033MetfsTer4
ENST00000520401.1:c.230+9718del
NM_000038.5:c.3096del NP_000029.2:p.Asp1033MetfsTer4
NM_001127510.2:c.3096del NP_001120982.1:p.Asp1033MetfsTer4
NM_001127511.2:c.3042del NP_001120983.2:p.Asp1015MetfsTer4
NM_001354895.1:c.3096del NP_001341824.1:p.Asp1033MetfsTer4
NM_001354896.1:c.3150del NP_001341825.1:p.Asp1051MetfsTer4
NM_001354897.1:c.3126del NP_001341826.1:p.Asp1043MetfsTer4
NM_001354898.1:c.3021del NP_001341827.1:p.Asp1008MetfsTer4
NM_001354899.1:c.3012del NP_001341828.1:p.Asp1005MetfsTer4
NM_001354900.1:c.2973del NP_001341829.1:p.Asp992MetfsTer4
NM_001354901.1:c.2919del NP_001341830.1:p.Asp974MetfsTer4
NM_001354902.1:c.2823del NP_001341831.1:p.Asp942MetfsTer4
NM_001354903.1:c.2793del NP_001341832.1:p.Asp932MetfsTer4
NM_001354904.1:c.2718del NP_001341833.1:p.Asp907MetfsTer4
NM_001354905.1:c.2616del NP_001341834.1:p.Asp873MetfsTer4
NM_001354906.1:c.2247del NP_001341835.1:p.Asp750MetfsTer4
NM_000038.6:c.3096del MANE Select NP_000029.2:p.Asp1033MetfsTer4
NM_001127510.3:c.3096del NP_001120982.1:p.Asp1033MetfsTer4
NM_001127511.3:c.3042del NP_001120983.2:p.Asp1015MetfsTer4
NM_001354895.2:c.3096del NP_001341824.1:p.Asp1033MetfsTer4
NM_001354896.2:c.3150del NP_001341825.1:p.Asp1051MetfsTer4
NM_001354897.2:c.3126del NP_001341826.1:p.Asp1043MetfsTer4
NM_001354898.2:c.3021del NP_001341827.1:p.Asp1008MetfsTer4
NM_001354899.2:c.3012del NP_001341828.1:p.Asp1005MetfsTer4
NM_001354900.2:c.2973del NP_001341829.1:p.Asp992MetfsTer4
NM_001354901.2:c.2919del NP_001341830.1:p.Asp974MetfsTer4
NM_001354902.2:c.2823del NP_001341831.1:p.Asp942MetfsTer4
NM_001354903.2:c.2793del NP_001341832.1:p.Asp932MetfsTer4
NM_001354904.2:c.2718del NP_001341833.1:p.Asp907MetfsTer4
NM_001354905.2:c.2616del NP_001341834.1:p.Asp873MetfsTer4
NM_001354906.2:c.2247del NP_001341835.1:p.Asp750MetfsTer4