Canonical Allele Identifier: CA2499217392
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 1053577
ClinVar RCV Id: RCV003538738
dbSNP Id: rs1554060212

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112707585dup , CM000667.2:g.112707585dup GRCh38
NC_000005.9:g.112043282dup , CM000667.1:g.112043282dup GRCh37
NC_000005.8:g.112071181dup NCBI36
NG_008481.4:g.20065dup , LRG_130:g.20065dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000505350.2:c.-133dup ENSP00000481752.1:n.-133dup
ENST00000507379.6:c.-133dup ENSP00000423224.2:n.-133dup
ENST00000509732.6:c.-83dup ENSP00000426541.2:n.-83dup
ENST00000505350.1:c.-133dup ENSP00000481752.1:n.-133dup
ENST00000507379.5:c.-133dup ENSP00000423224.1:n.-133dup
ENST00000509732.5:c.-83dup ENSP00000426541.1:n.-83dup
NM_001127511.2:c.-133dup NP_001120983.2:n.-133dup
NM_001354895.1:c.-316dup NP_001341824.1:n.-316dup
NM_001354897.1:c.-133dup NP_001341826.1:n.-133dup
NM_001354902.1:c.-133dup NP_001341831.1:n.-133dup
NM_001127511.3:c.-133dup NP_001120983.2:n.-133dup
NM_001354895.2:c.-316dup NP_001341824.1:n.-316dup
NM_001354897.2:c.-133dup NP_001341826.1:n.-133dup
NM_001354902.2:c.-133dup NP_001341831.1:n.-133dup