Canonical Allele Identifier: CA2580613641

Gene: APC

Linked Data

• ClinVar Variation Id: 1427985
• ClinVar RCV Id: RCV003653528
• dbSNP Id: rs2149992771

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843326_112843328del , CM000667.2:g.112843326_112843328del	GRCh38
NC_000005.9:g.112179023_112179025del , CM000667.1:g.112179023_112179025del	GRCh37
NC_000005.8:g.112206922_112206924del	NCBI36
NG_008481.4:g.155806_155808del , LRG_130:g.155806_155808del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7786_7788del	ENSP00000473355.2:p.Ser2596del
ENST00000505350.2:c.*7738_*7740del	ENSP00000481752.1:n.*7738_*7740del
ENST00000507379.6:c.7678_7680del	ENSP00000423224.2:p.Ser2560del
ENST00000509732.6:c.7732_7734del	ENSP00000426541.2:p.Ser2578del
ENST00000512211.7:c.7732_7734del	ENSP00000423828.3:p.Ser2578del
ENST00000257430.9:c.7732_7734del MANE Select	ENSP00000257430.4:p.Ser2578del
ENST00000257430.8:c.7732_7734del	ENSP00000257430.4:p.Ser2578del
ENST00000508376.6:c.7732_7734del	ENSP00000427089.2:p.Ser2578del
ENST00000520401.1:c.231-13323_231-13321del
NM_000038.5:c.7732_7734del	NP_000029.2:p.Ser2578del
NM_001127510.2:c.7732_7734del	NP_001120982.1:p.Ser2578del
NM_001127511.2:c.7678_7680del	NP_001120983.2:p.Ser2560del
NM_001354895.1:c.7732_7734del	NP_001341824.1:p.Ser2578del
NM_001354896.1:c.7786_7788del	NP_001341825.1:p.Ser2596del
NM_001354897.1:c.7762_7764del	NP_001341826.1:p.Ser2588del
NM_001354898.1:c.7657_7659del	NP_001341827.1:p.Ser2553del
NM_001354899.1:c.7648_7650del	NP_001341828.1:p.Ser2550del
NM_001354900.1:c.7609_7611del	NP_001341829.1:p.Ser2537del
NM_001354901.1:c.7555_7557del	NP_001341830.1:p.Ser2519del
NM_001354902.1:c.7459_7461del	NP_001341831.1:p.Ser2487del
NM_001354903.1:c.7429_7431del	NP_001341832.1:p.Ser2477del
NM_001354904.1:c.7354_7356del	NP_001341833.1:p.Ser2452del
NM_001354905.1:c.7252_7254del	NP_001341834.1:p.Ser2418del
NM_001354906.1:c.6883_6885del	NP_001341835.1:p.Ser2295del
NM_000038.6:c.7732_7734del MANE Select	NP_000029.2:p.Ser2578del
NM_001127510.3:c.7732_7734del	NP_001120982.1:p.Ser2578del
NM_001127511.3:c.7678_7680del	NP_001120983.2:p.Ser2560del
NM_001354895.2:c.7732_7734del	NP_001341824.1:p.Ser2578del
NM_001354896.2:c.7786_7788del	NP_001341825.1:p.Ser2596del
NM_001354897.2:c.7762_7764del	NP_001341826.1:p.Ser2588del
NM_001354898.2:c.7657_7659del	NP_001341827.1:p.Ser2553del
NM_001354899.2:c.7648_7650del	NP_001341828.1:p.Ser2550del
NM_001354900.2:c.7609_7611del	NP_001341829.1:p.Ser2537del
NM_001354901.2:c.7555_7557del	NP_001341830.1:p.Ser2519del
NM_001354902.2:c.7459_7461del	NP_001341831.1:p.Ser2487del
NM_001354903.2:c.7429_7431del	NP_001341832.1:p.Ser2477del
NM_001354904.2:c.7354_7356del	NP_001341833.1:p.Ser2452del
NM_001354905.2:c.7252_7254del	NP_001341834.1:p.Ser2418del
NM_001354906.2:c.6883_6885del	NP_001341835.1:p.Ser2295del