Canonical Allele Identifier: CA16602712
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 376264
ClinVar RCV Id: RCV000434934
dbSNP Id: rs1057519843

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112839522_112839532del , CM000667.2:g.112839522_112839532del GRCh38
NC_000005.9:g.112175219_112175229del , CM000667.1:g.112175219_112175229del GRCh37
NC_000005.8:g.112203118_112203128del NCBI36
NG_008481.4:g.152002_152012del , LRG_130:g.152002_152012del

Transcript Alleles

HGVS Amino-acid change
ENST00000257430.9:c.3928_3938del MANE Select ENSP00000257430.4:p.Lys1310Ter
ENST00000257430.8:c.3928_3938del ENSP00000257430.4:p.Lys1310Ter
ENST00000502371.2:n.2281_2291del
ENST00000508376.6:c.3928_3938del ENSP00000427089.2:p.Lys1310Ter
ENST00000508624.5:c.*3250_*3260del ENSP00000424265.1:p.=
ENST00000520401.1:n.230+10550_230+10560del
NM_000038.5:c.3928_3938del NP_000029.2:p.Lys1310Ter
NM_001127510.2:c.3928_3938del NP_001120982.1:p.Lys1310Ter
NM_001127511.2:c.3874_3884del NP_001120983.2:p.Lys1292Ter
NM_001354895.1:c.3928_3938del NP_001341824.1:p.Lys1310Ter
NM_001354896.1:c.3982_3992del NP_001341825.1:p.Lys1328Ter
NM_001354897.1:c.3958_3968del NP_001341826.1:p.Lys1320Ter
NM_001354898.1:c.3853_3863del NP_001341827.1:p.Lys1285Ter
NM_001354899.1:c.3844_3854del NP_001341828.1:p.Lys1282Ter
NM_001354900.1:c.3805_3815del NP_001341829.1:p.Lys1269Ter
NM_001354901.1:c.3751_3761del NP_001341830.1:p.Lys1251Ter
NM_001354902.1:c.3655_3665del NP_001341831.1:p.Lys1219Ter
NM_001354903.1:c.3625_3635del NP_001341832.1:p.Lys1209Ter
NM_001354904.1:c.3550_3560del NP_001341833.1:p.Lys1184Ter
NM_001354905.1:c.3448_3458del NP_001341834.1:p.Lys1150Ter
NM_001354906.1:c.3079_3089del NP_001341835.1:p.Lys1027Ter
NM_000038.6:c.3928_3938del MANE Select NP_000029.2:p.Lys1310Ter
NM_001127510.3:c.3928_3938del NP_001120982.1:p.Lys1310Ter
NM_001127511.3:c.3874_3884del NP_001120983.2:p.Lys1292Ter
NM_001354895.2:c.3928_3938del NP_001341824.1:p.Lys1310Ter
NM_001354896.2:c.3982_3992del NP_001341825.1:p.Lys1328Ter
NM_001354897.2:c.3958_3968del NP_001341826.1:p.Lys1320Ter
NM_001354898.2:c.3853_3863del NP_001341827.1:p.Lys1285Ter
NM_001354899.2:c.3844_3854del NP_001341828.1:p.Lys1282Ter
NM_001354900.2:c.3805_3815del NP_001341829.1:p.Lys1269Ter
NM_001354901.2:c.3751_3761del NP_001341830.1:p.Lys1251Ter
NM_001354902.2:c.3655_3665del NP_001341831.1:p.Lys1219Ter
NM_001354903.2:c.3625_3635del NP_001341832.1:p.Lys1209Ter
NM_001354904.2:c.3550_3560del NP_001341833.1:p.Lys1184Ter
NM_001354905.2:c.3448_3458del NP_001341834.1:p.Lys1150Ter
NM_001354906.2:c.3079_3089del NP_001341835.1:p.Lys1027Ter