Canonical Allele Identifier: CA2573138793
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 1413772
ClinVar RCV Id: RCV003745422
dbSNP Id: rs2149630195

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112707682dup , CM000667.2:g.112707682dup GRCh38
NC_000005.9:g.112043379dup , CM000667.1:g.112043379dup GRCh37
NC_000005.8:g.112071278dup NCBI36
NG_008481.4:g.20162dup , LRG_130:g.20162dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000505350.2:c.-36dup ENSP00000481752.1:n.-36dup
ENST00000507379.6:c.-36dup ENSP00000423224.2:n.-36dup
ENST00000509732.6:c.-19+33dup ENSP00000426541.2:n.-19+33dup
ENST00000505350.1:c.-36dup ENSP00000481752.1:n.-36dup
ENST00000507379.5:c.-36dup ENSP00000423224.1:n.-36dup
ENST00000509732.5:c.-19+33dup ENSP00000426541.1:n.-19+33dup
NM_001127511.2:c.-36dup NP_001120983.2:n.-36dup
NM_001354895.1:c.-219dup NP_001341824.1:n.-219dup
NM_001354897.1:c.-36dup NP_001341826.1:n.-36dup
NM_001354902.1:c.-36dup NP_001341831.1:n.-36dup
NM_001127511.3:c.-36dup NP_001120983.2:n.-36dup
NM_001354895.2:c.-219dup NP_001341824.1:n.-219dup
NM_001354897.2:c.-36dup NP_001341826.1:n.-36dup
NM_001354902.2:c.-36dup NP_001341831.1:n.-36dup