Canonical Allele Identifier: CA915942595

Gene: APC

Linked Data

• ClinVar Variation Id: 801027
• ClinVar RCV Id: RCV000985282 ; RCV002363511 ; RCV002549638 ; RCV003537383
• dbSNP Id: rs863225308

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112819261del , CM000667.2:g.112819261del	GRCh38
NC_000005.9:g.112154958del , CM000667.1:g.112154958del	GRCh37
NC_000005.8:g.112182857del	NCBI36
NG_008481.4:g.131741del , LRG_130:g.131741del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1229del	ENSP00000484935.2:p.Leu410TrpfsTer?
ENST00000504915.3:c.1229del	ENSP00000473355.2:p.Leu410TrpfsTer?
ENST00000505084.2:n.1285del
ENST00000505350.2:c.*1235del	ENSP00000481752.1:n.*1235del
ENST00000507379.6:c.1175del	ENSP00000423224.2:p.Leu392TrpfsTer?
ENST00000509732.6:c.1229del	ENSP00000426541.2:p.Leu410TrpfsTer?
ENST00000512211.7:c.1229del	ENSP00000423828.3:p.Leu410TrpfsTer?
ENST00000257430.9:c.1229del MANE Select	ENSP00000257430.4:p.Leu410TrpfsTer?
ENST00000257430.8:c.1229del	ENSP00000257430.4:p.Leu410TrpfsTer?
ENST00000507379.5:c.1175del	ENSP00000423224.1:p.Leu392TrpfsTer?
ENST00000508376.6:c.1229del	ENSP00000427089.2:p.Leu410TrpfsTer?
ENST00000508624.5:c.*551del	ENSP00000424265.1:n.*551del
ENST00000512211.6:c.1229del	ENSP00000423828.2:p.Leu410TrpfsTer?
NM_000038.5:c.1229del	NP_000029.2:p.Leu410TrpfsTer?
NM_001127510.2:c.1229del	NP_001120982.1:p.Leu410TrpfsTer?
NM_001127511.2:c.1175del	NP_001120983.2:p.Leu392TrpfsTer?
NM_001354895.1:c.1229del	NP_001341824.1:p.Leu410TrpfsTer?
NM_001354896.1:c.1229del	NP_001341825.1:p.Leu410TrpfsTer?
NM_001354897.1:c.1259del	NP_001341826.1:p.Leu420TrpfsTer?
NM_001354898.1:c.1154del	NP_001341827.1:p.Leu385TrpfsTer?
NM_001354899.1:c.1145del	NP_001341828.1:p.Leu382TrpfsTer?
NM_001354900.1:c.1052del	NP_001341829.1:p.Leu351TrpfsTer?
NM_001354901.1:c.1052del	NP_001341830.1:p.Leu351TrpfsTer?
NM_001354902.1:c.964-8del	NP_001341831.1:n.964-8del
NM_001354903.1:c.934-8del	NP_001341832.1:n.934-8del
NM_001354904.1:c.859-8del	NP_001341833.1:n.859-8del
NM_001354905.1:c.757-8del	NP_001341834.1:n.757-8del
NM_001354906.1:c.380del	NP_001341835.1:p.Leu127TrpfsTer?
NM_000038.6:c.1229del MANE Select	NP_000029.2:p.Leu410TrpfsTer?
NM_001127510.3:c.1229del	NP_001120982.1:p.Leu410TrpfsTer?
NM_001127511.3:c.1175del	NP_001120983.2:p.Leu392TrpfsTer?
NM_001354895.2:c.1229del	NP_001341824.1:p.Leu410TrpfsTer?
NM_001354896.2:c.1229del	NP_001341825.1:p.Leu410TrpfsTer?
NM_001354897.2:c.1259del	NP_001341826.1:p.Leu420TrpfsTer?
NM_001354898.2:c.1154del	NP_001341827.1:p.Leu385TrpfsTer?
NM_001354899.2:c.1145del	NP_001341828.1:p.Leu382TrpfsTer?
NM_001354900.2:c.1052del	NP_001341829.1:p.Leu351TrpfsTer?
NM_001354901.2:c.1052del	NP_001341830.1:p.Leu351TrpfsTer?
NM_001354902.2:c.964-8del	NP_001341831.1:n.964-8del
NM_001354903.2:c.934-8del	NP_001341832.1:n.934-8del
NM_001354904.2:c.859-8del	NP_001341833.1:n.859-8del
NM_001354905.2:c.757-8del	NP_001341834.1:n.757-8del
NM_001354906.2:c.380del	NP_001341835.1:p.Leu127TrpfsTer?