Canonical Allele Identifier: CA2582341354

Gene: APC

Linked Data

• ClinVar Variation Id: 2584158
• ClinVar RCV Id: RCV003337661 ; RCV003459843

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835086_112835087del , CM000667.2:g.112835086_112835087del	GRCh38
NC_000005.9:g.112170783_112170784del , CM000667.1:g.112170783_112170784del	GRCh37
NC_000005.8:g.112198682_112198683del	NCBI36
NG_008481.4:g.147566_147567del , LRG_130:g.147566_147567del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1544_1545del	ENSP00000484935.2:n.1544_1545del
ENST00000504915.3:c.1933_1934del	ENSP00000473355.2:p.Asn645HisfsTer6
ENST00000505350.2:c.*1885_*1886del	ENSP00000481752.1:n.*1885_*1886del
ENST00000507379.6:c.1825_1826del	ENSP00000423224.2:p.Asn609HisfsTer6
ENST00000509732.6:c.1879_1880del	ENSP00000426541.2:p.Asn627HisfsTer6
ENST00000512211.7:c.1879_1880del	ENSP00000423828.3:p.Asn627HisfsTer6
ENST00000257430.9:c.1879_1880del MANE Select	ENSP00000257430.4:p.Asn627HisfsTer6
ENST00000257430.8:c.1879_1880del	ENSP00000257430.4:p.Asn627HisfsTer6
ENST00000502371.2:c.232_233del
ENST00000504915.2:c.568_569del	ENSP00000473355.1:p.Asn190HisfsTer6
ENST00000507379.5:c.1825_1826del	ENSP00000423224.1:p.Asn609HisfsTer6
ENST00000508376.6:c.1879_1880del	ENSP00000427089.2:p.Asn627HisfsTer6
ENST00000508624.5:c.*1201_*1202del	ENSP00000424265.1:n.*1201_*1202del
ENST00000512211.6:c.1879_1880del	ENSP00000423828.2:p.Asn627HisfsTer6
ENST00000520401.1:c.230+6114_230+6115del
NM_000038.5:c.1879_1880del	NP_000029.2:p.Asn627HisfsTer6
NM_001127510.2:c.1879_1880del	NP_001120982.1:p.Asn627HisfsTer6
NM_001127511.2:c.1825_1826del	NP_001120983.2:p.Asn609HisfsTer6
NM_001354895.1:c.1879_1880del	NP_001341824.1:p.Asn627HisfsTer6
NM_001354896.1:c.1933_1934del	NP_001341825.1:p.Asn645HisfsTer6
NM_001354897.1:c.1909_1910del	NP_001341826.1:p.Asn637HisfsTer6
NM_001354898.1:c.1804_1805del	NP_001341827.1:p.Asn602HisfsTer6
NM_001354899.1:c.1795_1796del	NP_001341828.1:p.Asn599HisfsTer6
NM_001354900.1:c.1756_1757del	NP_001341829.1:p.Asn586HisfsTer6
NM_001354901.1:c.1702_1703del	NP_001341830.1:p.Asn568HisfsTer6
NM_001354902.1:c.1606_1607del	NP_001341831.1:p.Asn536HisfsTer6
NM_001354903.1:c.1576_1577del	NP_001341832.1:p.Asn526HisfsTer6
NM_001354904.1:c.1501_1502del	NP_001341833.1:p.Asn501HisfsTer6
NM_001354905.1:c.1399_1400del	NP_001341834.1:p.Asn467HisfsTer6
NM_001354906.1:c.1030_1031del	NP_001341835.1:p.Asn344HisfsTer6
NM_000038.6:c.1879_1880del MANE Select	NP_000029.2:p.Asn627HisfsTer6
NM_001127510.3:c.1879_1880del	NP_001120982.1:p.Asn627HisfsTer6
NM_001127511.3:c.1825_1826del	NP_001120983.2:p.Asn609HisfsTer6
NM_001354895.2:c.1879_1880del	NP_001341824.1:p.Asn627HisfsTer6
NM_001354896.2:c.1933_1934del	NP_001341825.1:p.Asn645HisfsTer6
NM_001354897.2:c.1909_1910del	NP_001341826.1:p.Asn637HisfsTer6
NM_001354898.2:c.1804_1805del	NP_001341827.1:p.Asn602HisfsTer6
NM_001354899.2:c.1795_1796del	NP_001341828.1:p.Asn599HisfsTer6
NM_001354900.2:c.1756_1757del	NP_001341829.1:p.Asn586HisfsTer6
NM_001354901.2:c.1702_1703del	NP_001341830.1:p.Asn568HisfsTer6
NM_001354902.2:c.1606_1607del	NP_001341831.1:p.Asn536HisfsTer6
NM_001354903.2:c.1576_1577del	NP_001341832.1:p.Asn526HisfsTer6
NM_001354904.2:c.1501_1502del	NP_001341833.1:p.Asn501HisfsTer6
NM_001354905.2:c.1399_1400del	NP_001341834.1:p.Asn467HisfsTer6
NM_001354906.2:c.1030_1031del	NP_001341835.1:p.Asn344HisfsTer6