Canonical Allele Identifier: CA16042093
Gene: APC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371823
ClinVar RCV Id: RCV000410538
dbSNP Id: rs1057517553

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112838607_112838613del , CM000667.2:g.112838607_112838613del GRCh38
NC_000005.8:g.112202203_112202209del NCBI36
NC_000005.9:g.112174304_112174310del , CM000667.1:g.112174304_112174310del GRCh37
NG_008481.4:g.151087_151093del , LRG_130:g.151087_151093del

Transcript Alleles

HGVS Amino-acid change
ENST00000257430.8:c.3013_3019del ENSP00000257430.4:p.Ala1005LysfsTer15
ENST00000502371.2:n.1366_1372del
ENST00000507379.5:c.2959_2965del ENSP00000423224.1:p.Ala987LysfsTer15
ENST00000508376.6:c.3013_3019del ENSP00000427089.2:p.Ala1005LysfsTer15
ENST00000508624.5:c.*2335_*2341del ENSP00000424265.1:p.=
ENST00000512211.6:c.3013_3019del ENSP00000423828.2:p.Ala1005LysfsTer15
ENST00000520401.1:n.230+9635_230+9641del
NM_000038.5:c.3013_3019del VV NP_000029.2:p.Ala1005LysfsTer15
NM_001127510.2:c.3013_3019del VV NP_001120982.1:p.Ala1005LysfsTer15
NM_001127511.2:c.2959_2965del VV NP_001120983.2:p.Ala987LysfsTer15
NM_001354895.1:c.3013_3019del VV NP_001341824.1:p.Ala1005LysfsTer15
NM_001354896.1:c.3067_3073del VV NP_001341825.1:p.Ala1023LysfsTer15
NM_001354897.1:c.3043_3049del VV NP_001341826.1:p.Ala1015LysfsTer15
NM_001354898.1:c.2938_2944del VV NP_001341827.1:p.Ala980LysfsTer15
NM_001354899.1:c.2929_2935del VV NP_001341828.1:p.Ala977LysfsTer15
NM_001354900.1:c.2890_2896del VV NP_001341829.1:p.Ala964LysfsTer15
NM_001354901.1:c.2836_2842del VV NP_001341830.1:p.Ala946LysfsTer15
NM_001354902.1:c.2740_2746del VV NP_001341831.1:p.Ala914LysfsTer15
NM_001354903.1:c.2710_2716del VV NP_001341832.1:p.Ala904LysfsTer15
NM_001354904.1:c.2635_2641del VV NP_001341833.1:p.Ala879LysfsTer15
NM_001354905.1:c.2533_2539del VV NP_001341834.1:p.Ala845LysfsTer15
NM_001354906.1:c.2164_2170del VV NP_001341835.1:p.Ala722LysfsTer15