Canonical Allele Identifier: CA2580613626

Gene: APC

Linked Data

• ClinVar Variation Id: 1454142
• ClinVar RCV Id: RCV003772941
• dbSNP Id: rs2149816948

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112828868_112828869del , CM000667.2:g.112828868_112828869del	GRCh38
NC_000005.9:g.112164565_112164566del , CM000667.1:g.112164565_112164566del	GRCh37
NC_000005.8:g.112192464_112192465del	NCBI36
NG_008481.4:g.141348_141349del , LRG_130:g.141348_141349del

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1409-6083_1409-6082del	ENSP00000484935.2:n.1409-6083_1409-6082de...
ENST00000504915.3:c.1693_1694del	ENSP00000473355.2:p.Val565PhefsTer12
ENST00000505084.2:n.1695_1696del
ENST00000505350.2:c.*1645_*1646del	ENSP00000481752.1:n.*1645_*1646del
ENST00000507379.6:c.1585_1586del	ENSP00000423224.2:p.Val529PhefsTer12
ENST00000509732.6:c.1639_1640del	ENSP00000426541.2:p.Val547PhefsTer12
ENST00000512211.7:c.1639_1640del	ENSP00000423828.3:p.Val547PhefsTer12
ENST00000257430.9:c.1639_1640del MANE Select	ENSP00000257430.4:p.Val547PhefsTer12
ENST00000257430.8:c.1639_1640del	ENSP00000257430.4:p.Val547PhefsTer12
ENST00000502371.2:c.97-6083_97-6082del
ENST00000504915.2:c.328_329del	ENSP00000473355.1:p.Val110PhefsTer12
ENST00000505084.1:n.126_127del
ENST00000507379.5:c.1585_1586del	ENSP00000423224.1:p.Val529PhefsTer12
ENST00000508376.6:c.1639_1640del	ENSP00000427089.2:p.Val547PhefsTer12
ENST00000508624.5:c.*961_*962del	ENSP00000424265.1:n.*961_*962del
ENST00000512211.6:c.1639_1640del	ENSP00000423828.2:p.Val547PhefsTer12
ENST00000520401.1:c.126_127del
NM_000038.5:c.1639_1640del	NP_000029.2:p.Val547PhefsTer12
NM_001127510.2:c.1639_1640del	NP_001120982.1:p.Val547PhefsTer12
NM_001127511.2:c.1585_1586del	NP_001120983.2:p.Val529PhefsTer12
NM_001354895.1:c.1639_1640del	NP_001341824.1:p.Val547PhefsTer12
NM_001354896.1:c.1693_1694del	NP_001341825.1:p.Val565PhefsTer12
NM_001354897.1:c.1669_1670del	NP_001341826.1:p.Val557PhefsTer12
NM_001354898.1:c.1564_1565del	NP_001341827.1:p.Val522PhefsTer12
NM_001354899.1:c.1555_1556del	NP_001341828.1:p.Val519PhefsTer12
NM_001354900.1:c.1516_1517del	NP_001341829.1:p.Val506PhefsTer12
NM_001354901.1:c.1462_1463del	NP_001341830.1:p.Val488PhefsTer12
NM_001354902.1:c.1366_1367del	NP_001341831.1:p.Val456PhefsTer12
NM_001354903.1:c.1336_1337del	NP_001341832.1:p.Val446PhefsTer12
NM_001354904.1:c.1261_1262del	NP_001341833.1:p.Val421PhefsTer12
NM_001354905.1:c.1159_1160del	NP_001341834.1:p.Val387PhefsTer12
NM_001354906.1:c.790_791del	NP_001341835.1:p.Val264PhefsTer12
NM_000038.6:c.1639_1640del MANE Select	NP_000029.2:p.Val547PhefsTer12
NM_001127510.3:c.1639_1640del	NP_001120982.1:p.Val547PhefsTer12
NM_001127511.3:c.1585_1586del	NP_001120983.2:p.Val529PhefsTer12
NM_001354895.2:c.1639_1640del	NP_001341824.1:p.Val547PhefsTer12
NM_001354896.2:c.1693_1694del	NP_001341825.1:p.Val565PhefsTer12
NM_001354897.2:c.1669_1670del	NP_001341826.1:p.Val557PhefsTer12
NM_001354898.2:c.1564_1565del	NP_001341827.1:p.Val522PhefsTer12
NM_001354899.2:c.1555_1556del	NP_001341828.1:p.Val519PhefsTer12
NM_001354900.2:c.1516_1517del	NP_001341829.1:p.Val506PhefsTer12
NM_001354901.2:c.1462_1463del	NP_001341830.1:p.Val488PhefsTer12
NM_001354902.2:c.1366_1367del	NP_001341831.1:p.Val456PhefsTer12
NM_001354903.2:c.1336_1337del	NP_001341832.1:p.Val446PhefsTer12
NM_001354904.2:c.1261_1262del	NP_001341833.1:p.Val421PhefsTer12
NM_001354905.2:c.1159_1160del	NP_001341834.1:p.Val387PhefsTer12
NM_001354906.2:c.790_791del	NP_001341835.1:p.Val264PhefsTer12