Canonical Allele Identifier: CA16618081
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 419301
ClinVar RCV Id: RCV000487380
dbSNP Id: rs1064793778
MyVariant Identifiers: chr5:g.112174626_112174627del (hg19) chr5:g.112838929_112838930del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112838929_112838930del , CM000667.2:g.112838929_112838930del GRCh38
NC_000005.9:g.112174626_112174627del , CM000667.1:g.112174626_112174627del GRCh37
NC_000005.8:g.112202525_112202526del NCBI36
NG_008481.4:g.151409_151410del , LRG_130:g.151409_151410del

Transcript Alleles

HGVS Amino-acid change
ENST00000502371.3:c.3000_3001del ENSP00000484935.2:n.3000_3001del
ENST00000504915.3:c.3389_3390del ENSP00000473355.2:p.Thr1130LysfsTer6
ENST00000505350.2:c.*3341_*3342del ENSP00000481752.1:n.*3341_*3342del
ENST00000507379.6:c.3281_3282del ENSP00000423224.2:p.Thr1094LysfsTer6
ENST00000509732.6:c.3335_3336del ENSP00000426541.2:p.Thr1112LysfsTer6
ENST00000512211.7:c.3335_3336del ENSP00000423828.3:p.Thr1112LysfsTer6
ENST00000257430.9:c.3335_3336del MANE Select ENSP00000257430.4:p.Thr1112LysfsTer6
ENST00000257430.8:c.3335_3336del ENSP00000257430.4:p.Thr1112LysfsTer6
ENST00000502371.2:c.1688_1689del
ENST00000507379.5:c.3281_3282del ENSP00000423224.1:p.Thr1094LysfsTer6
ENST00000508376.6:c.3335_3336del ENSP00000427089.2:p.Thr1112LysfsTer6
ENST00000508624.5:c.*2657_*2658del ENSP00000424265.1:n.*2657_*2658del
ENST00000512211.6:c.3335_3336del ENSP00000423828.2:p.Thr1112LysfsTer6
ENST00000520401.1:c.230+9957_230+9958del
NM_000038.5:c.3335_3336del NP_000029.2:p.Thr1112LysfsTer6
NM_001127510.2:c.3335_3336del NP_001120982.1:p.Thr1112LysfsTer6
NM_001127511.2:c.3281_3282del NP_001120983.2:p.Thr1094LysfsTer6
NM_001354895.1:c.3335_3336del NP_001341824.1:p.Thr1112LysfsTer6
NM_001354896.1:c.3389_3390del NP_001341825.1:p.Thr1130LysfsTer6
NM_001354897.1:c.3365_3366del NP_001341826.1:p.Thr1122LysfsTer6
NM_001354898.1:c.3260_3261del NP_001341827.1:p.Thr1087LysfsTer6
NM_001354899.1:c.3251_3252del NP_001341828.1:p.Thr1084LysfsTer6
NM_001354900.1:c.3212_3213del NP_001341829.1:p.Thr1071LysfsTer6
NM_001354901.1:c.3158_3159del NP_001341830.1:p.Thr1053LysfsTer6
NM_001354902.1:c.3062_3063del NP_001341831.1:p.Thr1021LysfsTer6
NM_001354903.1:c.3032_3033del NP_001341832.1:p.Thr1011LysfsTer6
NM_001354904.1:c.2957_2958del NP_001341833.1:p.Thr986LysfsTer6
NM_001354905.1:c.2855_2856del NP_001341834.1:p.Thr952LysfsTer6
NM_001354906.1:c.2486_2487del NP_001341835.1:p.Thr829LysfsTer6
NM_000038.6:c.3335_3336del MANE Select NP_000029.2:p.Thr1112LysfsTer6
NM_001127510.3:c.3335_3336del NP_001120982.1:p.Thr1112LysfsTer6
NM_001127511.3:c.3281_3282del NP_001120983.2:p.Thr1094LysfsTer6
NM_001354895.2:c.3335_3336del NP_001341824.1:p.Thr1112LysfsTer6
NM_001354896.2:c.3389_3390del NP_001341825.1:p.Thr1130LysfsTer6
NM_001354897.2:c.3365_3366del NP_001341826.1:p.Thr1122LysfsTer6
NM_001354898.2:c.3260_3261del NP_001341827.1:p.Thr1087LysfsTer6
NM_001354899.2:c.3251_3252del NP_001341828.1:p.Thr1084LysfsTer6
NM_001354900.2:c.3212_3213del NP_001341829.1:p.Thr1071LysfsTer6
NM_001354901.2:c.3158_3159del NP_001341830.1:p.Thr1053LysfsTer6
NM_001354902.2:c.3062_3063del NP_001341831.1:p.Thr1021LysfsTer6
NM_001354903.2:c.3032_3033del NP_001341832.1:p.Thr1011LysfsTer6
NM_001354904.2:c.2957_2958del NP_001341833.1:p.Thr986LysfsTer6
NM_001354905.2:c.2855_2856del NP_001341834.1:p.Thr952LysfsTer6
NM_001354906.2:c.2486_2487del NP_001341835.1:p.Thr829LysfsTer6
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