Canonical Allele Identifier: CA2499217458
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 1049497
ClinVar RCV Id: RCV001355667
dbSNP Id: rs2149840729

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112834949_112835166del , CM000667.2:g.112834949_112835166del GRCh38
NC_000005.9:g.112170646_112170863del , CM000667.1:g.112170646_112170863del GRCh37
NC_000005.8:g.112198545_112198762del NCBI36
NG_008481.4:g.147429_147646del , LRG_130:g.147429_147646del

Transcript Alleles

HGVS Amino-acid change
ENST00000502371.3:c.1409-2_1623+1del
ENST00000504915.3:c.1798-2_2012+1del
ENST00000505350.2:c.*1750-2_*1964+1del
ENST00000507379.6:c.1690-2_1904+1del
ENST00000509732.6:c.1744-2_1958+1del
ENST00000512211.7:c.1744-2_1958+1del
ENST00000257430.9:c.1744-2_1958+1del
ENST00000257430.8:c.1744-2_1958+1del
ENST00000502371.2:c.97-2_311+1del
ENST00000504915.2:c.433-2_647+1del
ENST00000507379.5:c.1690-2_1904+1del
ENST00000508376.6:c.1744-2_1958+1del
ENST00000508624.5:c.*1066-2_*1280+1del
ENST00000512211.6:c.1744-2_1958+1del
ENST00000520401.1:c.230+5977_230+6194del
NM_000038.5:c.1744-2_1958+1del
NM_001127510.2:c.1744-2_1958+1del
NM_001127511.2:c.1690-2_1904+1del
NM_001354895.1:c.1744-2_1958+1del
NM_001354896.1:c.1798-2_2012+1del
NM_001354897.1:c.1774-2_1988+1del
NM_001354898.1:c.1669-2_1883+1del
NM_001354899.1:c.1660-2_1874+1del
NM_001354900.1:c.1621-2_1835+1del
NM_001354901.1:c.1567-2_1781+1del
NM_001354902.1:c.1471-2_1685+1del
NM_001354903.1:c.1441-2_1655+1del
NM_001354904.1:c.1366-2_1580+1del
NM_001354905.1:c.1264-2_1478+1del
NM_001354906.1:c.895-2_1109+1del
NM_000038.6:c.1744-2_1958+1del
NM_001127510.3:c.1744-2_1958+1del
NM_001127511.3:c.1690-2_1904+1del
NM_001354895.2:c.1744-2_1958+1del
NM_001354896.2:c.1798-2_2012+1del
NM_001354897.2:c.1774-2_1988+1del
NM_001354898.2:c.1669-2_1883+1del
NM_001354899.2:c.1660-2_1874+1del
NM_001354900.2:c.1621-2_1835+1del
NM_001354901.2:c.1567-2_1781+1del
NM_001354902.2:c.1471-2_1685+1del
NM_001354903.2:c.1441-2_1655+1del
NM_001354904.2:c.1366-2_1580+1del
NM_001354905.2:c.1264-2_1478+1del
NM_001354906.2:c.895-2_1109+1del