Canonical Allele Identifier: CA009642

Gene: APC

Linked Data

• ClinVar Variation Id: 823
• ClinVar RCV Id: RCV000000866 ; RCV001781152 ; RCV002336071 ; RCV003335008 ; RCV002512626 ; RCV003227591 ; RCV004017217
• dbSNP Id: rs387906236
• gnomAD v3: 5-112840204-CAG-C
• gnomAD v4: 5-112840204-CAG-C
• COSMIC: COSM19698 ; COSM4166194
• MyVariant Identifiers: chr5:g.112175902_112175903del (hg19) ; chr5:g.112840205_112840206del (hg38)
• PubMed: PMID:7485167 ; PMID:9375853 ; PMID:15024739 ; PMID:20223039 ; PMID:20513532

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840206_112840207del , CM000667.2:g.112840206_112840207del	GRCh38
NC_000005.9:g.112175903_112175904del , CM000667.1:g.112175903_112175904del	GRCh37
NC_000005.8:g.112203802_112203803del	NCBI36
NG_008481.4:g.152686_152687del , LRG_130:g.152686_152687del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4666_4667del	ENSP00000473355.2:p.Glu1556IlefsTer5
ENST00000505350.2:c.*4618_*4619del	ENSP00000481752.1:n.*4618_*4619del
ENST00000507379.6:c.4558_4559del	ENSP00000423224.2:p.Glu1520IlefsTer5
ENST00000509732.6:c.4612_4613del	ENSP00000426541.2:p.Glu1538IlefsTer5
ENST00000512211.7:c.4612_4613del	ENSP00000423828.3:p.Glu1538IlefsTer5
ENST00000257430.9:c.4612_4613del MANE Select	ENSP00000257430.4:p.Glu1538IlefsTer5
ENST00000257430.8:c.4612_4613del	ENSP00000257430.4:p.Glu1538IlefsTer5
ENST00000508376.6:c.4612_4613del	ENSP00000427089.2:p.Glu1538IlefsTer5
ENST00000508624.5:c.*3934_*3935del	ENSP00000424265.1:n.*3934_*3935del
ENST00000520401.1:c.230+11234_230+11235del
NM_000038.5:c.4612_4613del	NP_000029.2:p.Glu1538IlefsTer5
NM_001127510.2:c.4612_4613del	NP_001120982.1:p.Glu1538IlefsTer5
NM_001127511.2:c.4558_4559del	NP_001120983.2:p.Glu1520IlefsTer5
NM_001354895.1:c.4612_4613del	NP_001341824.1:p.Glu1538IlefsTer5
NM_001354896.1:c.4666_4667del	NP_001341825.1:p.Glu1556IlefsTer5
NM_001354897.1:c.4642_4643del	NP_001341826.1:p.Glu1548IlefsTer5
NM_001354898.1:c.4537_4538del	NP_001341827.1:p.Glu1513IlefsTer5
NM_001354899.1:c.4528_4529del	NP_001341828.1:p.Glu1510IlefsTer5
NM_001354900.1:c.4489_4490del	NP_001341829.1:p.Glu1497IlefsTer5
NM_001354901.1:c.4435_4436del	NP_001341830.1:p.Glu1479IlefsTer5
NM_001354902.1:c.4339_4340del	NP_001341831.1:p.Glu1447IlefsTer5
NM_001354903.1:c.4309_4310del	NP_001341832.1:p.Glu1437IlefsTer5
NM_001354904.1:c.4234_4235del	NP_001341833.1:p.Glu1412IlefsTer5
NM_001354905.1:c.4132_4133del	NP_001341834.1:p.Glu1378IlefsTer5
NM_001354906.1:c.3763_3764del	NP_001341835.1:p.Glu1255IlefsTer5
NM_000038.6:c.4612_4613del MANE Select	NP_000029.2:p.Glu1538IlefsTer5
NM_001127510.3:c.4612_4613del	NP_001120982.1:p.Glu1538IlefsTer5
NM_001127511.3:c.4558_4559del	NP_001120983.2:p.Glu1520IlefsTer5
NM_001354895.2:c.4612_4613del	NP_001341824.1:p.Glu1538IlefsTer5
NM_001354896.2:c.4666_4667del	NP_001341825.1:p.Glu1556IlefsTer5
NM_001354897.2:c.4642_4643del	NP_001341826.1:p.Glu1548IlefsTer5
NM_001354898.2:c.4537_4538del	NP_001341827.1:p.Glu1513IlefsTer5
NM_001354899.2:c.4528_4529del	NP_001341828.1:p.Glu1510IlefsTer5
NM_001354900.2:c.4489_4490del	NP_001341829.1:p.Glu1497IlefsTer5
NM_001354901.2:c.4435_4436del	NP_001341830.1:p.Glu1479IlefsTer5
NM_001354902.2:c.4339_4340del	NP_001341831.1:p.Glu1447IlefsTer5
NM_001354903.2:c.4309_4310del	NP_001341832.1:p.Glu1437IlefsTer5
NM_001354904.2:c.4234_4235del	NP_001341833.1:p.Glu1412IlefsTer5
NM_001354905.2:c.4132_4133del	NP_001341834.1:p.Glu1378IlefsTer5
NM_001354906.2:c.3763_3764del	NP_001341835.1:p.Glu1255IlefsTer5