Canonical Allele Identifier: CA16611603
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 411476
ClinVar RCV Id: RCV002323746 RCV002525610
dbSNP Id: rs1060503327
MyVariant Identifiers: chr5:g.112174532_112174533del (hg19) chr5:g.112838835_112838836del (hg38)
PubMed: PMID:9375853
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112838835_112838836del , CM000667.2:g.112838835_112838836del GRCh38
NC_000005.9:g.112174532_112174533del , CM000667.1:g.112174532_112174533del GRCh37
NC_000005.8:g.112202431_112202432del NCBI36
NG_008481.4:g.151315_151316del , LRG_130:g.151315_151316del

Transcript Alleles

HGVS Amino-acid change
ENST00000502371.3:c.2906_2907del ENSP00000484935.2:n.2906_2907del
ENST00000504915.3:c.3295_3296del ENSP00000473355.2:p.Ser1099HisfsTer2
ENST00000505350.2:c.*3247_*3248del ENSP00000481752.1:n.*3247_*3248del
ENST00000507379.6:c.3187_3188del ENSP00000423224.2:p.Ser1063HisfsTer2
ENST00000509732.6:c.3241_3242del ENSP00000426541.2:p.Ser1081HisfsTer2
ENST00000512211.7:c.3241_3242del ENSP00000423828.3:p.Ser1081HisfsTer2
ENST00000257430.9:c.3241_3242del MANE Select ENSP00000257430.4:p.Ser1081HisfsTer2
ENST00000257430.8:c.3241_3242del ENSP00000257430.4:p.Ser1081HisfsTer2
ENST00000502371.2:c.1594_1595del
ENST00000507379.5:c.3187_3188del ENSP00000423224.1:p.Ser1063HisfsTer2
ENST00000508376.6:c.3241_3242del ENSP00000427089.2:p.Ser1081HisfsTer2
ENST00000508624.5:c.*2563_*2564del ENSP00000424265.1:n.*2563_*2564del
ENST00000512211.6:c.3241_3242del ENSP00000423828.2:p.Ser1081HisfsTer2
ENST00000520401.1:c.230+9863_230+9864del
NM_000038.5:c.3241_3242del NP_000029.2:p.Ser1081HisfsTer2
NM_001127510.2:c.3241_3242del NP_001120982.1:p.Ser1081HisfsTer2
NM_001127511.2:c.3187_3188del NP_001120983.2:p.Ser1063HisfsTer2
NM_001354895.1:c.3241_3242del NP_001341824.1:p.Ser1081HisfsTer2
NM_001354896.1:c.3295_3296del NP_001341825.1:p.Ser1099HisfsTer2
NM_001354897.1:c.3271_3272del NP_001341826.1:p.Ser1091HisfsTer2
NM_001354898.1:c.3166_3167del NP_001341827.1:p.Ser1056HisfsTer2
NM_001354899.1:c.3157_3158del NP_001341828.1:p.Ser1053HisfsTer2
NM_001354900.1:c.3118_3119del NP_001341829.1:p.Ser1040HisfsTer2
NM_001354901.1:c.3064_3065del NP_001341830.1:p.Ser1022HisfsTer2
NM_001354902.1:c.2968_2969del NP_001341831.1:p.Ser990HisfsTer2
NM_001354903.1:c.2938_2939del NP_001341832.1:p.Ser980HisfsTer2
NM_001354904.1:c.2863_2864del NP_001341833.1:p.Ser955HisfsTer2
NM_001354905.1:c.2761_2762del NP_001341834.1:p.Ser921HisfsTer2
NM_001354906.1:c.2392_2393del NP_001341835.1:p.Ser798HisfsTer2
NM_000038.6:c.3241_3242del MANE Select NP_000029.2:p.Ser1081HisfsTer2
NM_001127510.3:c.3241_3242del NP_001120982.1:p.Ser1081HisfsTer2
NM_001127511.3:c.3187_3188del NP_001120983.2:p.Ser1063HisfsTer2
NM_001354895.2:c.3241_3242del NP_001341824.1:p.Ser1081HisfsTer2
NM_001354896.2:c.3295_3296del NP_001341825.1:p.Ser1099HisfsTer2
NM_001354897.2:c.3271_3272del NP_001341826.1:p.Ser1091HisfsTer2
NM_001354898.2:c.3166_3167del NP_001341827.1:p.Ser1056HisfsTer2
NM_001354899.2:c.3157_3158del NP_001341828.1:p.Ser1053HisfsTer2
NM_001354900.2:c.3118_3119del NP_001341829.1:p.Ser1040HisfsTer2
NM_001354901.2:c.3064_3065del NP_001341830.1:p.Ser1022HisfsTer2
NM_001354902.2:c.2968_2969del NP_001341831.1:p.Ser990HisfsTer2
NM_001354903.2:c.2938_2939del NP_001341832.1:p.Ser980HisfsTer2
NM_001354904.2:c.2863_2864del NP_001341833.1:p.Ser955HisfsTer2
NM_001354905.2:c.2761_2762del NP_001341834.1:p.Ser921HisfsTer2
NM_001354906.2:c.2392_2393del NP_001341835.1:p.Ser798HisfsTer2
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