Canonical Allele Identifier: CA2499217501

Gene: APC

Linked Data

• ClinVar Variation Id: 1074715
• ClinVar RCV Id: RCV002413917 ; RCV002551564 ; RCV003652235
• dbSNP Id: rs2149993527
• gnomAD v4: 5-112843365-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843366_112843367del , CM000667.2:g.112843366_112843367del	GRCh38
NC_000005.9:g.112179063_112179064del , CM000667.1:g.112179063_112179064del	GRCh37
NC_000005.8:g.112206962_112206963del	NCBI36
NG_008481.4:g.155846_155847del , LRG_130:g.155846_155847del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7826_7827del	ENSP00000473355.2:p.His2609ArgfsTer11
ENST00000505350.2:c.*7778_*7779del	ENSP00000481752.1:n.*7778_*7779del
ENST00000507379.6:c.7718_7719del	ENSP00000423224.2:p.His2573ArgfsTer11
ENST00000509732.6:c.7772_7773del	ENSP00000426541.2:p.His2591ArgfsTer11
ENST00000512211.7:c.7772_7773del	ENSP00000423828.3:p.His2591ArgfsTer11
ENST00000257430.9:c.7772_7773del MANE Select	ENSP00000257430.4:p.His2591ArgfsTer11
ENST00000257430.8:c.7772_7773del	ENSP00000257430.4:p.His2591ArgfsTer11
ENST00000508376.6:c.7772_7773del	ENSP00000427089.2:p.His2591ArgfsTer11
ENST00000520401.1:c.231-13283_231-13282del
NM_000038.5:c.7772_7773del	NP_000029.2:p.His2591ArgfsTer11
NM_001127510.2:c.7772_7773del	NP_001120982.1:p.His2591ArgfsTer11
NM_001127511.2:c.7718_7719del	NP_001120983.2:p.His2573ArgfsTer11
NM_001354895.1:c.7772_7773del	NP_001341824.1:p.His2591ArgfsTer11
NM_001354896.1:c.7826_7827del	NP_001341825.1:p.His2609ArgfsTer11
NM_001354897.1:c.7802_7803del	NP_001341826.1:p.His2601ArgfsTer11
NM_001354898.1:c.7697_7698del	NP_001341827.1:p.His2566ArgfsTer11
NM_001354899.1:c.7688_7689del	NP_001341828.1:p.His2563ArgfsTer11
NM_001354900.1:c.7649_7650del	NP_001341829.1:p.His2550ArgfsTer11
NM_001354901.1:c.7595_7596del	NP_001341830.1:p.His2532ArgfsTer11
NM_001354902.1:c.7499_7500del	NP_001341831.1:p.His2500ArgfsTer11
NM_001354903.1:c.7469_7470del	NP_001341832.1:p.His2490ArgfsTer11
NM_001354904.1:c.7394_7395del	NP_001341833.1:p.His2465ArgfsTer11
NM_001354905.1:c.7292_7293del	NP_001341834.1:p.His2431ArgfsTer11
NM_001354906.1:c.6923_6924del	NP_001341835.1:p.His2308ArgfsTer11
NM_000038.6:c.7772_7773del MANE Select	NP_000029.2:p.His2591ArgfsTer11
NM_001127510.3:c.7772_7773del	NP_001120982.1:p.His2591ArgfsTer11
NM_001127511.3:c.7718_7719del	NP_001120983.2:p.His2573ArgfsTer11
NM_001354895.2:c.7772_7773del	NP_001341824.1:p.His2591ArgfsTer11
NM_001354896.2:c.7826_7827del	NP_001341825.1:p.His2609ArgfsTer11
NM_001354897.2:c.7802_7803del	NP_001341826.1:p.His2601ArgfsTer11
NM_001354898.2:c.7697_7698del	NP_001341827.1:p.His2566ArgfsTer11
NM_001354899.2:c.7688_7689del	NP_001341828.1:p.His2563ArgfsTer11
NM_001354900.2:c.7649_7650del	NP_001341829.1:p.His2550ArgfsTer11
NM_001354901.2:c.7595_7596del	NP_001341830.1:p.His2532ArgfsTer11
NM_001354902.2:c.7499_7500del	NP_001341831.1:p.His2500ArgfsTer11
NM_001354903.2:c.7469_7470del	NP_001341832.1:p.His2490ArgfsTer11
NM_001354904.2:c.7394_7395del	NP_001341833.1:p.His2465ArgfsTer11
NM_001354905.2:c.7292_7293del	NP_001341834.1:p.His2431ArgfsTer11
NM_001354906.2:c.6923_6924del	NP_001341835.1:p.His2308ArgfsTer11