Canonical Allele Identifier: CA1139659004

Gene: APC

Linked Data

• ClinVar Variation Id: 941683
• ClinVar RCV Id: RCV002241092 ; RCV002411777
• dbSNP Id: rs1766584117

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843459_112843460delinsAG , CM000667.2:g.112843459_112843460delinsAG	GRCh38
NC_000005.9:g.112179156_112179157delinsAG , CM000667.1:g.112179156_112179157delinsAG	GRCh37
NC_000005.8:g.112207055_112207056delinsAG	NCBI36
NG_008481.4:g.155939_155940delinsAG , LRG_130:g.155939_155940delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7919_7920delinsAG	ENSP00000473355.2:p.Pro2640Gln
ENST00000505350.2:c.*7871_*7872delinsAG	ENSP00000481752.1:n.*7871_*7872delinsAG
ENST00000507379.6:c.7811_7812delinsAG	ENSP00000423224.2:p.Pro2604Gln
ENST00000509732.6:c.7865_7866delinsAG	ENSP00000426541.2:p.Pro2622Gln
ENST00000512211.7:c.7865_7866delinsAG	ENSP00000423828.3:p.Pro2622Gln
ENST00000257430.9:c.7865_7866delinsAG MANE Select	ENSP00000257430.4:p.Pro2622Gln
ENST00000257430.8:c.7865_7866delinsAG	ENSP00000257430.4:p.Pro2622Gln
ENST00000508376.6:c.7865_7866delinsAG	ENSP00000427089.2:p.Pro2622Gln
ENST00000520401.1:c.231-13190_231-13189delinsAG
NM_000038.5:c.7865_7866delinsAG	NP_000029.2:p.Pro2622Gln
NM_001127510.2:c.7865_7866delinsAG	NP_001120982.1:p.Pro2622Gln
NM_001127511.2:c.7811_7812delinsAG	NP_001120983.2:p.Pro2604Gln
NM_001354895.1:c.7865_7866delinsAG	NP_001341824.1:p.Pro2622Gln
NM_001354896.1:c.7919_7920delinsAG	NP_001341825.1:p.Pro2640Gln
NM_001354897.1:c.7895_7896delinsAG	NP_001341826.1:p.Pro2632Gln
NM_001354898.1:c.7790_7791delinsAG	NP_001341827.1:p.Pro2597Gln
NM_001354899.1:c.7781_7782delinsAG	NP_001341828.1:p.Pro2594Gln
NM_001354900.1:c.7742_7743delinsAG	NP_001341829.1:p.Pro2581Gln
NM_001354901.1:c.7688_7689delinsAG	NP_001341830.1:p.Pro2563Gln
NM_001354902.1:c.7592_7593delinsAG	NP_001341831.1:p.Pro2531Gln
NM_001354903.1:c.7562_7563delinsAG	NP_001341832.1:p.Pro2521Gln
NM_001354904.1:c.7487_7488delinsAG	NP_001341833.1:p.Pro2496Gln
NM_001354905.1:c.7385_7386delinsAG	NP_001341834.1:p.Pro2462Gln
NM_001354906.1:c.7016_7017delinsAG	NP_001341835.1:p.Pro2339Gln
NM_000038.6:c.7865_7866delinsAG MANE Select	NP_000029.2:p.Pro2622Gln
NM_001127510.3:c.7865_7866delinsAG	NP_001120982.1:p.Pro2622Gln
NM_001127511.3:c.7811_7812delinsAG	NP_001120983.2:p.Pro2604Gln
NM_001354895.2:c.7865_7866delinsAG	NP_001341824.1:p.Pro2622Gln
NM_001354896.2:c.7919_7920delinsAG	NP_001341825.1:p.Pro2640Gln
NM_001354897.2:c.7895_7896delinsAG	NP_001341826.1:p.Pro2632Gln
NM_001354898.2:c.7790_7791delinsAG	NP_001341827.1:p.Pro2597Gln
NM_001354899.2:c.7781_7782delinsAG	NP_001341828.1:p.Pro2594Gln
NM_001354900.2:c.7742_7743delinsAG	NP_001341829.1:p.Pro2581Gln
NM_001354901.2:c.7688_7689delinsAG	NP_001341830.1:p.Pro2563Gln
NM_001354902.2:c.7592_7593delinsAG	NP_001341831.1:p.Pro2531Gln
NM_001354903.2:c.7562_7563delinsAG	NP_001341832.1:p.Pro2521Gln
NM_001354904.2:c.7487_7488delinsAG	NP_001341833.1:p.Pro2496Gln
NM_001354905.2:c.7385_7386delinsAG	NP_001341834.1:p.Pro2462Gln
NM_001354906.2:c.7016_7017delinsAG	NP_001341835.1:p.Pro2339Gln