Canonical Allele Identifier: CA2580072378
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 1759129
ClinVar RCV Id: RCV002391535

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112843083_112843084delinsAA , CM000667.2:g.112843083_112843084delinsAA GRCh38
NC_000005.9:g.112178780_112178781delinsAA , CM000667.1:g.112178780_112178781delinsAA GRCh37
NC_000005.8:g.112206679_112206680delinsAA NCBI36
NG_008481.4:g.155563_155564delinsAA , LRG_130:g.155563_155564delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.7543_7544delinsAA ENSP00000473355.2:p.Ser2515Lys
ENST00000505350.2:c.*7495_*7496delinsAA ENSP00000481752.1:n.*7495_*7496delinsAA
ENST00000507379.6:c.7435_7436delinsAA ENSP00000423224.2:p.Ser2479Lys
ENST00000509732.6:c.7489_7490delinsAA ENSP00000426541.2:p.Ser2497Lys
ENST00000512211.7:c.7489_7490delinsAA ENSP00000423828.3:p.Ser2497Lys
ENST00000257430.9:c.7489_7490delinsAA MANE Select ENSP00000257430.4:p.Ser2497Lys
ENST00000257430.8:c.7489_7490delinsAA ENSP00000257430.4:p.Ser2497Lys
ENST00000508376.6:c.7489_7490delinsAA ENSP00000427089.2:p.Ser2497Lys
ENST00000520401.1:c.231-13566_231-13565delinsAA
NM_000038.5:c.7489_7490delinsAA NP_000029.2:p.Ser2497Lys
NM_001127510.2:c.7489_7490delinsAA NP_001120982.1:p.Ser2497Lys
NM_001127511.2:c.7435_7436delinsAA NP_001120983.2:p.Ser2479Lys
NM_001354895.1:c.7489_7490delinsAA NP_001341824.1:p.Ser2497Lys
NM_001354896.1:c.7543_7544delinsAA NP_001341825.1:p.Ser2515Lys
NM_001354897.1:c.7519_7520delinsAA NP_001341826.1:p.Ser2507Lys
NM_001354898.1:c.7414_7415delinsAA NP_001341827.1:p.Ser2472Lys
NM_001354899.1:c.7405_7406delinsAA NP_001341828.1:p.Ser2469Lys
NM_001354900.1:c.7366_7367delinsAA NP_001341829.1:p.Ser2456Lys
NM_001354901.1:c.7312_7313delinsAA NP_001341830.1:p.Ser2438Lys
NM_001354902.1:c.7216_7217delinsAA NP_001341831.1:p.Ser2406Lys
NM_001354903.1:c.7186_7187delinsAA NP_001341832.1:p.Ser2396Lys
NM_001354904.1:c.7111_7112delinsAA NP_001341833.1:p.Ser2371Lys
NM_001354905.1:c.7009_7010delinsAA NP_001341834.1:p.Ser2337Lys
NM_001354906.1:c.6640_6641delinsAA NP_001341835.1:p.Ser2214Lys
NM_000038.6:c.7489_7490delinsAA MANE Select NP_000029.2:p.Ser2497Lys
NM_001127510.3:c.7489_7490delinsAA NP_001120982.1:p.Ser2497Lys
NM_001127511.3:c.7435_7436delinsAA NP_001120983.2:p.Ser2479Lys
NM_001354895.2:c.7489_7490delinsAA NP_001341824.1:p.Ser2497Lys
NM_001354896.2:c.7543_7544delinsAA NP_001341825.1:p.Ser2515Lys
NM_001354897.2:c.7519_7520delinsAA NP_001341826.1:p.Ser2507Lys
NM_001354898.2:c.7414_7415delinsAA NP_001341827.1:p.Ser2472Lys
NM_001354899.2:c.7405_7406delinsAA NP_001341828.1:p.Ser2469Lys
NM_001354900.2:c.7366_7367delinsAA NP_001341829.1:p.Ser2456Lys
NM_001354901.2:c.7312_7313delinsAA NP_001341830.1:p.Ser2438Lys
NM_001354902.2:c.7216_7217delinsAA NP_001341831.1:p.Ser2406Lys
NM_001354903.2:c.7186_7187delinsAA NP_001341832.1:p.Ser2396Lys
NM_001354904.2:c.7111_7112delinsAA NP_001341833.1:p.Ser2371Lys
NM_001354905.2:c.7009_7010delinsAA NP_001341834.1:p.Ser2337Lys
NM_001354906.2:c.6640_6641delinsAA NP_001341835.1:p.Ser2214Lys