Canonical Allele Identifier: CA658760347

Gene: APC

Linked Data

• ClinVar Variation Id: 2584057
• ClinVar RCV Id: RCV003334979

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835092_112835093del , CM000667.2:g.112835092_112835093del	GRCh38
NC_000005.9:g.112170789_112170790del , CM000667.1:g.112170789_112170790del	GRCh37
NC_000005.8:g.112198688_112198689del	NCBI36
NG_008481.4:g.147572_147573del , LRG_130:g.147572_147573del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1550_1551del	ENSP00000484935.2:n.1550_1551del
ENST00000504915.3:c.1939_1940del	ENSP00000473355.2:p.Leu647SerfsTer4
ENST00000505350.2:c.*1891_*1892del	ENSP00000481752.1:n.*1891_*1892del
ENST00000507379.6:c.1831_1832del	ENSP00000423224.2:p.Leu611SerfsTer4
ENST00000509732.6:c.1885_1886del	ENSP00000426541.2:p.Leu629SerfsTer4
ENST00000512211.7:c.1885_1886del	ENSP00000423828.3:p.Leu629SerfsTer4
ENST00000257430.9:c.1885_1886del MANE Select	ENSP00000257430.4:p.Leu629SerfsTer4
ENST00000257430.8:c.1885_1886del	ENSP00000257430.4:p.Leu629SerfsTer4
ENST00000502371.2:c.238_239del
ENST00000504915.2:c.574_575del	ENSP00000473355.1:p.Leu192SerfsTer4
ENST00000507379.5:c.1831_1832del	ENSP00000423224.1:p.Leu611SerfsTer4
ENST00000508376.6:c.1885_1886del	ENSP00000427089.2:p.Leu629SerfsTer4
ENST00000508624.5:c.*1207_*1208del	ENSP00000424265.1:n.*1207_*1208del
ENST00000512211.6:c.1885_1886del	ENSP00000423828.2:p.Leu629SerfsTer4
ENST00000520401.1:c.230+6120_230+6121del
NM_000038.5:c.1885_1886del	NP_000029.2:p.Leu629SerfsTer4
NM_001127510.2:c.1885_1886del	NP_001120982.1:p.Leu629SerfsTer4
NM_001127511.2:c.1831_1832del	NP_001120983.2:p.Leu611SerfsTer4
NM_001354895.1:c.1885_1886del	NP_001341824.1:p.Leu629SerfsTer4
NM_001354896.1:c.1939_1940del	NP_001341825.1:p.Leu647SerfsTer4
NM_001354897.1:c.1915_1916del	NP_001341826.1:p.Leu639SerfsTer4
NM_001354898.1:c.1810_1811del	NP_001341827.1:p.Leu604SerfsTer4
NM_001354899.1:c.1801_1802del	NP_001341828.1:p.Leu601SerfsTer4
NM_001354900.1:c.1762_1763del	NP_001341829.1:p.Leu588SerfsTer4
NM_001354901.1:c.1708_1709del	NP_001341830.1:p.Leu570SerfsTer4
NM_001354902.1:c.1612_1613del	NP_001341831.1:p.Leu538SerfsTer4
NM_001354903.1:c.1582_1583del	NP_001341832.1:p.Leu528SerfsTer4
NM_001354904.1:c.1507_1508del	NP_001341833.1:p.Leu503SerfsTer4
NM_001354905.1:c.1405_1406del	NP_001341834.1:p.Leu469SerfsTer4
NM_001354906.1:c.1036_1037del	NP_001341835.1:p.Leu346SerfsTer4
NM_000038.6:c.1885_1886del MANE Select	NP_000029.2:p.Leu629SerfsTer4
NM_001127510.3:c.1885_1886del	NP_001120982.1:p.Leu629SerfsTer4
NM_001127511.3:c.1831_1832del	NP_001120983.2:p.Leu611SerfsTer4
NM_001354895.2:c.1885_1886del	NP_001341824.1:p.Leu629SerfsTer4
NM_001354896.2:c.1939_1940del	NP_001341825.1:p.Leu647SerfsTer4
NM_001354897.2:c.1915_1916del	NP_001341826.1:p.Leu639SerfsTer4
NM_001354898.2:c.1810_1811del	NP_001341827.1:p.Leu604SerfsTer4
NM_001354899.2:c.1801_1802del	NP_001341828.1:p.Leu601SerfsTer4
NM_001354900.2:c.1762_1763del	NP_001341829.1:p.Leu588SerfsTer4
NM_001354901.2:c.1708_1709del	NP_001341830.1:p.Leu570SerfsTer4
NM_001354902.2:c.1612_1613del	NP_001341831.1:p.Leu538SerfsTer4
NM_001354903.2:c.1582_1583del	NP_001341832.1:p.Leu528SerfsTer4
NM_001354904.2:c.1507_1508del	NP_001341833.1:p.Leu503SerfsTer4
NM_001354905.2:c.1405_1406del	NP_001341834.1:p.Leu469SerfsTer4
NM_001354906.2:c.1036_1037del	NP_001341835.1:p.Leu346SerfsTer4