Canonical Allele Identifier: CA2582341316

Gene: APC

Linked Data

• ClinVar Variation Id: 2583865
• ClinVar RCV Id: RCV003337520

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112834981_112834994del , CM000667.2:g.112834981_112834994del	GRCh38
NC_000005.9:g.112170678_112170691del , CM000667.1:g.112170678_112170691del	GRCh37
NC_000005.8:g.112198577_112198590del	NCBI36
NG_008481.4:g.147461_147474del , LRG_130:g.147461_147474del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1439_1452del	ENSP00000484935.2:p.Leu480GlnfsTer14
ENST00000504915.3:c.1828_1841del	ENSP00000473355.2:p.Leu610SerfsTer5
ENST00000505350.2:c.*1780_*1793del	ENSP00000481752.1:n.*1780_*1793del
ENST00000507379.6:c.1720_1733del	ENSP00000423224.2:p.Leu574SerfsTer5
ENST00000509732.6:c.1774_1787del	ENSP00000426541.2:p.Leu592SerfsTer5
ENST00000512211.7:c.1774_1787del	ENSP00000423828.3:p.Leu592SerfsTer5
ENST00000257430.9:c.1774_1787del MANE Select	ENSP00000257430.4:p.Leu592SerfsTer5
ENST00000257430.8:c.1774_1787del	ENSP00000257430.4:p.Leu592SerfsTer5
ENST00000502371.2:c.127_140del
ENST00000504915.2:c.463_476del	ENSP00000473355.1:p.Leu155SerfsTer5
ENST00000507379.5:c.1720_1733del	ENSP00000423224.1:p.Leu574SerfsTer5
ENST00000508376.6:c.1774_1787del	ENSP00000427089.2:p.Leu592SerfsTer5
ENST00000508624.5:c.*1096_*1109del	ENSP00000424265.1:n.*1096_*1109del
ENST00000512211.6:c.1774_1787del	ENSP00000423828.2:p.Leu592SerfsTer5
ENST00000520401.1:c.230+6009_230+6022del
NM_000038.5:c.1774_1787del	NP_000029.2:p.Leu592SerfsTer5
NM_001127510.2:c.1774_1787del	NP_001120982.1:p.Leu592SerfsTer5
NM_001127511.2:c.1720_1733del	NP_001120983.2:p.Leu574SerfsTer5
NM_001354895.1:c.1774_1787del	NP_001341824.1:p.Leu592SerfsTer5
NM_001354896.1:c.1828_1841del	NP_001341825.1:p.Leu610SerfsTer5
NM_001354897.1:c.1804_1817del	NP_001341826.1:p.Leu602SerfsTer5
NM_001354898.1:c.1699_1712del	NP_001341827.1:p.Leu567SerfsTer5
NM_001354899.1:c.1690_1703del	NP_001341828.1:p.Leu564SerfsTer5
NM_001354900.1:c.1651_1664del	NP_001341829.1:p.Leu551SerfsTer5
NM_001354901.1:c.1597_1610del	NP_001341830.1:p.Leu533SerfsTer5
NM_001354902.1:c.1501_1514del	NP_001341831.1:p.Leu501SerfsTer5
NM_001354903.1:c.1471_1484del	NP_001341832.1:p.Leu491SerfsTer5
NM_001354904.1:c.1396_1409del	NP_001341833.1:p.Leu466SerfsTer5
NM_001354905.1:c.1294_1307del	NP_001341834.1:p.Leu432SerfsTer5
NM_001354906.1:c.925_938del	NP_001341835.1:p.Leu309SerfsTer5
NM_000038.6:c.1774_1787del MANE Select	NP_000029.2:p.Leu592SerfsTer5
NM_001127510.3:c.1774_1787del	NP_001120982.1:p.Leu592SerfsTer5
NM_001127511.3:c.1720_1733del	NP_001120983.2:p.Leu574SerfsTer5
NM_001354895.2:c.1774_1787del	NP_001341824.1:p.Leu592SerfsTer5
NM_001354896.2:c.1828_1841del	NP_001341825.1:p.Leu610SerfsTer5
NM_001354897.2:c.1804_1817del	NP_001341826.1:p.Leu602SerfsTer5
NM_001354898.2:c.1699_1712del	NP_001341827.1:p.Leu567SerfsTer5
NM_001354899.2:c.1690_1703del	NP_001341828.1:p.Leu564SerfsTer5
NM_001354900.2:c.1651_1664del	NP_001341829.1:p.Leu551SerfsTer5
NM_001354901.2:c.1597_1610del	NP_001341830.1:p.Leu533SerfsTer5
NM_001354902.2:c.1501_1514del	NP_001341831.1:p.Leu501SerfsTer5
NM_001354903.2:c.1471_1484del	NP_001341832.1:p.Leu491SerfsTer5
NM_001354904.2:c.1396_1409del	NP_001341833.1:p.Leu466SerfsTer5
NM_001354905.2:c.1294_1307del	NP_001341834.1:p.Leu432SerfsTer5
NM_001354906.2:c.925_938del	NP_001341835.1:p.Leu309SerfsTer5