Canonical Allele Identifier: CA562217624

Gene: APC

Linked Data

• ClinVar Variation Id: 827255
• ClinVar RCV Id: RCV001026814 ; RCV001776090 ; RCV002552418 ; RCV003336275
• dbSNP Id: rs1561618361
• gnomAD v2: 5-112179084-CCAAA-C
• gnomAD v4: 5-112843387-CCAAA-C
• MyVariant Identifiers: chr5:g.112179085_112179088del (hg19) ; chr5:g.112843388_112843391del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843392_112843395del , CM000667.2:g.112843392_112843395del	GRCh38
NC_000005.9:g.112179089_112179092del , CM000667.1:g.112179089_112179092del	GRCh37
NC_000005.8:g.112206988_112206991del	NCBI36
NG_008481.4:g.155872_155875del , LRG_130:g.155872_155875del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7852_7855del	ENSP00000473355.2:p.Gln2618ValfsTer15
ENST00000505350.2:c.*7804_*7807del	ENSP00000481752.1:n.*7804_*7807del
ENST00000507379.6:c.7744_7747del	ENSP00000423224.2:p.Gln2582ValfsTer15
ENST00000509732.6:c.7798_7801del	ENSP00000426541.2:p.Gln2600ValfsTer15
ENST00000512211.7:c.7798_7801del	ENSP00000423828.3:p.Gln2600ValfsTer15
ENST00000257430.9:c.7798_7801del MANE Select	ENSP00000257430.4:p.Gln2600ValfsTer15
ENST00000257430.8:c.7798_7801del	ENSP00000257430.4:p.Gln2600ValfsTer15
ENST00000508376.6:c.7798_7801del	ENSP00000427089.2:p.Gln2600ValfsTer15
ENST00000520401.1:c.231-13257_231-13254del
NM_000038.5:c.7798_7801del	NP_000029.2:p.Gln2600ValfsTer15
NM_001127510.2:c.7798_7801del	NP_001120982.1:p.Gln2600ValfsTer15
NM_001127511.2:c.7744_7747del	NP_001120983.2:p.Gln2582ValfsTer15
NM_001354895.1:c.7798_7801del	NP_001341824.1:p.Gln2600ValfsTer15
NM_001354896.1:c.7852_7855del	NP_001341825.1:p.Gln2618ValfsTer15
NM_001354897.1:c.7828_7831del	NP_001341826.1:p.Gln2610ValfsTer15
NM_001354898.1:c.7723_7726del	NP_001341827.1:p.Gln2575ValfsTer15
NM_001354899.1:c.7714_7717del	NP_001341828.1:p.Gln2572ValfsTer15
NM_001354900.1:c.7675_7678del	NP_001341829.1:p.Gln2559ValfsTer15
NM_001354901.1:c.7621_7624del	NP_001341830.1:p.Gln2541ValfsTer15
NM_001354902.1:c.7525_7528del	NP_001341831.1:p.Gln2509ValfsTer15
NM_001354903.1:c.7495_7498del	NP_001341832.1:p.Gln2499ValfsTer15
NM_001354904.1:c.7420_7423del	NP_001341833.1:p.Gln2474ValfsTer15
NM_001354905.1:c.7318_7321del	NP_001341834.1:p.Gln2440ValfsTer15
NM_001354906.1:c.6949_6952del	NP_001341835.1:p.Gln2317ValfsTer15
NM_000038.6:c.7798_7801del MANE Select	NP_000029.2:p.Gln2600ValfsTer15
NM_001127510.3:c.7798_7801del	NP_001120982.1:p.Gln2600ValfsTer15
NM_001127511.3:c.7744_7747del	NP_001120983.2:p.Gln2582ValfsTer15
NM_001354895.2:c.7798_7801del	NP_001341824.1:p.Gln2600ValfsTer15
NM_001354896.2:c.7852_7855del	NP_001341825.1:p.Gln2618ValfsTer15
NM_001354897.2:c.7828_7831del	NP_001341826.1:p.Gln2610ValfsTer15
NM_001354898.2:c.7723_7726del	NP_001341827.1:p.Gln2575ValfsTer15
NM_001354899.2:c.7714_7717del	NP_001341828.1:p.Gln2572ValfsTer15
NM_001354900.2:c.7675_7678del	NP_001341829.1:p.Gln2559ValfsTer15
NM_001354901.2:c.7621_7624del	NP_001341830.1:p.Gln2541ValfsTer15
NM_001354902.2:c.7525_7528del	NP_001341831.1:p.Gln2509ValfsTer15
NM_001354903.2:c.7495_7498del	NP_001341832.1:p.Gln2499ValfsTer15
NM_001354904.2:c.7420_7423del	NP_001341833.1:p.Gln2474ValfsTer15
NM_001354905.2:c.7318_7321del	NP_001341834.1:p.Gln2440ValfsTer15
NM_001354906.2:c.6949_6952del	NP_001341835.1:p.Gln2317ValfsTer15