Canonical Allele Identifier: CA2499217376
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 1050412
ClinVar RCV Id: RCV001357810
dbSNP Id: rs2149682237

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112737857_112738779del , CM000667.2:g.112737857_112738779del GRCh38
NC_000005.9:g.112073554_112074476del , CM000667.1:g.112073554_112074476del GRCh37
NC_000005.8:g.112101453_112102375del NCBI36
NG_008481.4:g.50337_51259del , LRG_130:g.50337_51259del

Transcript Alleles

HGVS Amino-acid Change
ENST00000505350.2:c.166-17016_166-16094del ENSP00000481752.1:n.166-17016_166-16094del
ENST00000507379.6:c.166-28469_166-27547del ENSP00000423224.2:n.166-28469_166-27547del
ENST00000509732.6:c.-18-17016_-18-16094del ENSP00000426541.2:n.-18-17016_-18-16094del
ENST00000505350.1:c.166-17016_166-16094del ENSP00000481752.1:n.166-17016_166-16094del
ENST00000507379.5:c.166-28469_166-27547del ENSP00000423224.1:n.166-28469_166-27547del
ENST00000509732.5:c.-18-17016_-18-16094del ENSP00000426541.1:n.-18-17016_-18-16094del
NM_001127511.2:c.166-28469_166-27547del NP_001120983.2:n.166-28469_166-27547del
NM_001354895.1:c.-18-17016_-18-16094del NP_001341824.1:n.-18-17016_-18-16094del
NM_001354897.1:c.166-28469_166-27547del NP_001341826.1:n.166-28469_166-27547del
NM_001354902.1:c.166-28469_166-27547del NP_001341831.1:n.166-28469_166-27547del
NM_001127511.3:c.166-28469_166-27547del NP_001120983.2:n.166-28469_166-27547del
NM_001354895.2:c.-18-17016_-18-16094del NP_001341824.1:n.-18-17016_-18-16094del
NM_001354897.2:c.166-28469_166-27547del NP_001341826.1:n.166-28469_166-27547del
NM_001354902.2:c.166-28469_166-27547del NP_001341831.1:n.166-28469_166-27547del