Canonical Allele Identifier: CA802039915
Gene: APC HGNC NCBI

Linked Data

dbSNP Id: rs1290394001

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112828869_112828870insG , CM000667.2:g.112828869_112828870insG GRCh38
NC_000005.9:g.112164566_112164567insG , CM000667.1:g.112164566_112164567insG GRCh37
NC_000005.8:g.112192465_112192466insG NCBI36
NG_008481.4:g.141349_141350insG , LRG_130:g.141349_141350insG

Transcript Alleles

HGVS Amino-acid change
ENST00000257430.9:c.1640_1641insG MANE Select ENSP00000257430.4:p.Leu548PhefsTer12
ENST00000257430.8:c.1640_1641insG ENSP00000257430.4:p.Leu548PhefsTer12
ENST00000502371.2:n.97-6082_97-6081insG
ENST00000504915.2:n.329_330insG ENSP00000473355.1:p.Leu111PhefsTer12
ENST00000505084.1:n.127_128insG
ENST00000507379.5:c.1586_1587insG ENSP00000423224.1:p.Leu530PhefsTer12
ENST00000508376.6:c.1640_1641insG ENSP00000427089.2:p.Leu548PhefsTer12
ENST00000508624.5:c.*962_*963insG ENSP00000424265.1:n.*962_*963insG
ENST00000512211.6:c.1640_1641insG ENSP00000423828.2:p.Leu548PhefsTer12
ENST00000520401.1:n.127_128insG
NM_000038.5:c.1640_1641insG NP_000029.2:p.Leu548PhefsTer12
NM_001127510.2:c.1640_1641insG NP_001120982.1:p.Leu548PhefsTer12
NM_001127511.2:c.1586_1587insG NP_001120983.2:p.Leu530PhefsTer12
NM_001354895.1:c.1640_1641insG NP_001341824.1:p.Leu548PhefsTer12
NM_001354896.1:c.1694_1695insG NP_001341825.1:p.Leu566PhefsTer12
NM_001354897.1:c.1670_1671insG NP_001341826.1:p.Leu558PhefsTer12
NM_001354898.1:c.1565_1566insG NP_001341827.1:p.Leu523PhefsTer12
NM_001354899.1:c.1556_1557insG NP_001341828.1:p.Leu520PhefsTer12
NM_001354900.1:c.1517_1518insG NP_001341829.1:p.Leu507PhefsTer12
NM_001354901.1:c.1463_1464insG NP_001341830.1:p.Leu489PhefsTer12
NM_001354902.1:c.1367_1368insG NP_001341831.1:p.Leu457PhefsTer12
NM_001354903.1:c.1337_1338insG NP_001341832.1:p.Leu447PhefsTer12
NM_001354904.1:c.1262_1263insG NP_001341833.1:p.Leu422PhefsTer12
NM_001354905.1:c.1160_1161insG NP_001341834.1:p.Leu388PhefsTer12
NM_001354906.1:c.791_792insG NP_001341835.1:p.Leu265PhefsTer12
NM_000038.6:c.1640_1641insG MANE Select NP_000029.2:p.Leu548PhefsTer12
NM_001127510.3:c.1640_1641insG NP_001120982.1:p.Leu548PhefsTer12
NM_001127511.3:c.1586_1587insG NP_001120983.2:p.Leu530PhefsTer12
NM_001354895.2:c.1640_1641insG NP_001341824.1:p.Leu548PhefsTer12
NM_001354896.2:c.1694_1695insG NP_001341825.1:p.Leu566PhefsTer12
NM_001354897.2:c.1670_1671insG NP_001341826.1:p.Leu558PhefsTer12
NM_001354898.2:c.1565_1566insG NP_001341827.1:p.Leu523PhefsTer12
NM_001354899.2:c.1556_1557insG NP_001341828.1:p.Leu520PhefsTer12
NM_001354900.2:c.1517_1518insG NP_001341829.1:p.Leu507PhefsTer12
NM_001354901.2:c.1463_1464insG NP_001341830.1:p.Leu489PhefsTer12
NM_001354902.2:c.1367_1368insG NP_001341831.1:p.Leu457PhefsTer12
NM_001354903.2:c.1337_1338insG NP_001341832.1:p.Leu447PhefsTer12
NM_001354904.2:c.1262_1263insG NP_001341833.1:p.Leu422PhefsTer12
NM_001354905.2:c.1160_1161insG NP_001341834.1:p.Leu388PhefsTer12
NM_001354906.2:c.791_792insG NP_001341835.1:p.Leu265PhefsTer12