Canonical Allele Identifier: CA2582341366
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2583963
ClinVar RCV Id: RCV003334885

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112840350_112840351del , CM000667.2:g.112840350_112840351del GRCh38
NC_000005.9:g.112176047_112176048del , CM000667.1:g.112176047_112176048del GRCh37
NC_000005.8:g.112203946_112203947del NCBI36
NG_008481.4:g.152830_152831del , LRG_130:g.152830_152831del

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.4810_4811del ENSP00000473355.2:p.Lys1604ValfsTer4
ENST00000505350.2:c.*4762_*4763del ENSP00000481752.1:n.*4762_*4763del
ENST00000507379.6:c.4702_4703del ENSP00000423224.2:p.Lys1568ValfsTer4
ENST00000509732.6:c.4756_4757del ENSP00000426541.2:p.Lys1586ValfsTer4
ENST00000512211.7:c.4756_4757del ENSP00000423828.3:p.Lys1586ValfsTer4
ENST00000257430.9:c.4756_4757del MANE Select ENSP00000257430.4:p.Lys1586ValfsTer4
ENST00000257430.8:c.4756_4757del ENSP00000257430.4:p.Lys1586ValfsTer4
ENST00000508376.6:c.4756_4757del ENSP00000427089.2:p.Lys1586ValfsTer4
ENST00000508624.5:c.*4078_*4079del ENSP00000424265.1:n.*4078_*4079del
ENST00000520401.1:c.230+11378_230+11379del
NM_000038.5:c.4756_4757del NP_000029.2:p.Lys1586ValfsTer4
NM_001127510.2:c.4756_4757del NP_001120982.1:p.Lys1586ValfsTer4
NM_001127511.2:c.4702_4703del NP_001120983.2:p.Lys1568ValfsTer4
NM_001354895.1:c.4756_4757del NP_001341824.1:p.Lys1586ValfsTer4
NM_001354896.1:c.4810_4811del NP_001341825.1:p.Lys1604ValfsTer4
NM_001354897.1:c.4786_4787del NP_001341826.1:p.Lys1596ValfsTer4
NM_001354898.1:c.4681_4682del NP_001341827.1:p.Lys1561ValfsTer4
NM_001354899.1:c.4672_4673del NP_001341828.1:p.Lys1558ValfsTer4
NM_001354900.1:c.4633_4634del NP_001341829.1:p.Lys1545ValfsTer4
NM_001354901.1:c.4579_4580del NP_001341830.1:p.Lys1527ValfsTer4
NM_001354902.1:c.4483_4484del NP_001341831.1:p.Lys1495ValfsTer4
NM_001354903.1:c.4453_4454del NP_001341832.1:p.Lys1485ValfsTer4
NM_001354904.1:c.4378_4379del NP_001341833.1:p.Lys1460ValfsTer4
NM_001354905.1:c.4276_4277del NP_001341834.1:p.Lys1426ValfsTer4
NM_001354906.1:c.3907_3908del NP_001341835.1:p.Lys1303ValfsTer4
NM_000038.6:c.4756_4757del MANE Select NP_000029.2:p.Lys1586ValfsTer4
NM_001127510.3:c.4756_4757del NP_001120982.1:p.Lys1586ValfsTer4
NM_001127511.3:c.4702_4703del NP_001120983.2:p.Lys1568ValfsTer4
NM_001354895.2:c.4756_4757del NP_001341824.1:p.Lys1586ValfsTer4
NM_001354896.2:c.4810_4811del NP_001341825.1:p.Lys1604ValfsTer4
NM_001354897.2:c.4786_4787del NP_001341826.1:p.Lys1596ValfsTer4
NM_001354898.2:c.4681_4682del NP_001341827.1:p.Lys1561ValfsTer4
NM_001354899.2:c.4672_4673del NP_001341828.1:p.Lys1558ValfsTer4
NM_001354900.2:c.4633_4634del NP_001341829.1:p.Lys1545ValfsTer4
NM_001354901.2:c.4579_4580del NP_001341830.1:p.Lys1527ValfsTer4
NM_001354902.2:c.4483_4484del NP_001341831.1:p.Lys1495ValfsTer4
NM_001354903.2:c.4453_4454del NP_001341832.1:p.Lys1485ValfsTer4
NM_001354904.2:c.4378_4379del NP_001341833.1:p.Lys1460ValfsTer4
NM_001354905.2:c.4276_4277del NP_001341834.1:p.Lys1426ValfsTer4
NM_001354906.2:c.3907_3908del NP_001341835.1:p.Lys1303ValfsTer4