Canonical Allele Identifier: CA2580072298
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2128743
ClinVar RCV Id: RCV003745005

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112707596_112707624dup , CM000667.2:g.112707596_112707624dup GRCh38
NC_000005.9:g.112043293_112043321dup , CM000667.1:g.112043293_112043321dup GRCh37
NC_000005.8:g.112071192_112071220dup NCBI36
NG_008481.4:g.20076_20104dup , LRG_130:g.20076_20104dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000505350.2:c.-122_-94dup ENSP00000481752.1:n.-122_-94dup
ENST00000507379.6:c.-122_-94dup ENSP00000423224.2:n.-122_-94dup
ENST00000509732.6:c.-72_-44dup ENSP00000426541.2:n.-72_-44dup
ENST00000505350.1:c.-122_-94dup ENSP00000481752.1:n.-122_-94dup
ENST00000507379.5:c.-122_-94dup ENSP00000423224.1:n.-122_-94dup
ENST00000509732.5:c.-72_-44dup ENSP00000426541.1:n.-72_-44dup
NM_001127511.2:c.-122_-94dup NP_001120983.2:n.-122_-94dup
NM_001354895.1:c.-305_-277dup NP_001341824.1:n.-305_-277dup
NM_001354897.1:c.-122_-94dup NP_001341826.1:n.-122_-94dup
NM_001354902.1:c.-122_-94dup NP_001341831.1:n.-122_-94dup
NM_001127511.3:c.-122_-94dup NP_001120983.2:n.-122_-94dup
NM_001354895.2:c.-305_-277dup NP_001341824.1:n.-305_-277dup
NM_001354897.2:c.-122_-94dup NP_001341826.1:n.-122_-94dup
NM_001354902.2:c.-122_-94dup NP_001341831.1:n.-122_-94dup