Canonical Allele Identifier: CA645509165

Gene: APC

Linked Data

• ClinVar Variation Id: 438889
• ClinVar RCV Id: RCV000507134 ; RCV003337305 ; RCV002395217
• dbSNP Id: rs1554088383
• MyVariant Identifiers: chr5:g.112178758_112178759dup (hg19) ; chr5:g.112843061_112843062dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843061_112843062dup , CM000667.2:g.112843061_112843062dup	GRCh38
NC_000005.9:g.112178758_112178759dup , CM000667.1:g.112178758_112178759dup	GRCh37
NC_000005.8:g.112206657_112206658dup	NCBI36
NG_008481.4:g.155541_155542dup , LRG_130:g.155541_155542dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7521_7522dup	ENSP00000473355.2:p.Asp2508ValfsTer27
ENST00000505350.2:c.*7473_*7474dup	ENSP00000481752.1:n.*7473_*7474dup
ENST00000507379.6:c.7413_7414dup	ENSP00000423224.2:p.Asp2472ValfsTer27
ENST00000509732.6:c.7467_7468dup	ENSP00000426541.2:p.Asp2490ValfsTer27
ENST00000512211.7:c.7467_7468dup	ENSP00000423828.3:p.Asp2490ValfsTer27
ENST00000257430.9:c.7467_7468dup MANE Select	ENSP00000257430.4:p.Asp2490ValfsTer27
ENST00000257430.8:c.7467_7468dup	ENSP00000257430.4:p.Asp2490ValfsTer27
ENST00000508376.6:c.7467_7468dup	ENSP00000427089.2:p.Asp2490ValfsTer27
ENST00000520401.1:c.231-13588_231-13587dup
NM_000038.5:c.7467_7468dup	NP_000029.2:p.Asp2490ValfsTer27
NM_001127510.2:c.7467_7468dup	NP_001120982.1:p.Asp2490ValfsTer27
NM_001127511.2:c.7413_7414dup	NP_001120983.2:p.Asp2472ValfsTer27
NM_001354895.1:c.7467_7468dup	NP_001341824.1:p.Asp2490ValfsTer27
NM_001354896.1:c.7521_7522dup	NP_001341825.1:p.Asp2508ValfsTer27
NM_001354897.1:c.7497_7498dup	NP_001341826.1:p.Asp2500ValfsTer27
NM_001354898.1:c.7392_7393dup	NP_001341827.1:p.Asp2465ValfsTer27
NM_001354899.1:c.7383_7384dup	NP_001341828.1:p.Asp2462ValfsTer27
NM_001354900.1:c.7344_7345dup	NP_001341829.1:p.Asp2449ValfsTer27
NM_001354901.1:c.7290_7291dup	NP_001341830.1:p.Asp2431ValfsTer27
NM_001354902.1:c.7194_7195dup	NP_001341831.1:p.Asp2399ValfsTer27
NM_001354903.1:c.7164_7165dup	NP_001341832.1:p.Asp2389ValfsTer27
NM_001354904.1:c.7089_7090dup	NP_001341833.1:p.Asp2364ValfsTer27
NM_001354905.1:c.6987_6988dup	NP_001341834.1:p.Asp2330ValfsTer27
NM_001354906.1:c.6618_6619dup	NP_001341835.1:p.Asp2207ValfsTer27
NM_000038.6:c.7467_7468dup MANE Select	NP_000029.2:p.Asp2490ValfsTer27
NM_001127510.3:c.7467_7468dup	NP_001120982.1:p.Asp2490ValfsTer27
NM_001127511.3:c.7413_7414dup	NP_001120983.2:p.Asp2472ValfsTer27
NM_001354895.2:c.7467_7468dup	NP_001341824.1:p.Asp2490ValfsTer27
NM_001354896.2:c.7521_7522dup	NP_001341825.1:p.Asp2508ValfsTer27
NM_001354897.2:c.7497_7498dup	NP_001341826.1:p.Asp2500ValfsTer27
NM_001354898.2:c.7392_7393dup	NP_001341827.1:p.Asp2465ValfsTer27
NM_001354899.2:c.7383_7384dup	NP_001341828.1:p.Asp2462ValfsTer27
NM_001354900.2:c.7344_7345dup	NP_001341829.1:p.Asp2449ValfsTer27
NM_001354901.2:c.7290_7291dup	NP_001341830.1:p.Asp2431ValfsTer27
NM_001354902.2:c.7194_7195dup	NP_001341831.1:p.Asp2399ValfsTer27
NM_001354903.2:c.7164_7165dup	NP_001341832.1:p.Asp2389ValfsTer27
NM_001354904.2:c.7089_7090dup	NP_001341833.1:p.Asp2364ValfsTer27
NM_001354905.2:c.6987_6988dup	NP_001341834.1:p.Asp2330ValfsTer27
NM_001354906.2:c.6618_6619dup	NP_001341835.1:p.Asp2207ValfsTer27