Canonical Allele Identifier: CA2543984220

Gene: APC

Linked Data

• ClinVar Variation Id: 1361956
• ClinVar RCV Id: RCV001899936 ; RCV002422914 ; RCV003772525
• dbSNP Id: rs2149997043
• gnomAD v4: 5-112843555-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843558_112843559del , CM000667.2:g.112843558_112843559del	GRCh38
NC_000005.9:g.112179255_112179256del , CM000667.1:g.112179255_112179256del	GRCh37
NC_000005.8:g.112207154_112207155del	NCBI36
NG_008481.4:g.156038_156039del , LRG_130:g.156038_156039del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8018_8019del	ENSP00000473355.2:p.Glu2673GlyfsTer7
ENST00000505350.2:c.*7970_*7971del	ENSP00000481752.1:n.*7970_*7971del
ENST00000507379.6:c.7910_7911del	ENSP00000423224.2:p.Glu2637GlyfsTer7
ENST00000509732.6:c.7964_7965del	ENSP00000426541.2:p.Glu2655GlyfsTer7
ENST00000512211.7:c.7964_7965del	ENSP00000423828.3:p.Glu2655GlyfsTer7
ENST00000257430.9:c.7964_7965del MANE Select	ENSP00000257430.4:p.Glu2655GlyfsTer7
ENST00000257430.8:c.7964_7965del	ENSP00000257430.4:p.Glu2655GlyfsTer7
ENST00000508376.6:c.7964_7965del	ENSP00000427089.2:p.Glu2655GlyfsTer7
ENST00000520401.1:c.231-13091_231-13090del
NM_000038.5:c.7964_7965del	NP_000029.2:p.Glu2655GlyfsTer7
NM_001127510.2:c.7964_7965del	NP_001120982.1:p.Glu2655GlyfsTer7
NM_001127511.2:c.7910_7911del	NP_001120983.2:p.Glu2637GlyfsTer7
NM_001354895.1:c.7964_7965del	NP_001341824.1:p.Glu2655GlyfsTer7
NM_001354896.1:c.8018_8019del	NP_001341825.1:p.Glu2673GlyfsTer7
NM_001354897.1:c.7994_7995del	NP_001341826.1:p.Glu2665GlyfsTer7
NM_001354898.1:c.7889_7890del	NP_001341827.1:p.Glu2630GlyfsTer7
NM_001354899.1:c.7880_7881del	NP_001341828.1:p.Glu2627GlyfsTer7
NM_001354900.1:c.7841_7842del	NP_001341829.1:p.Glu2614GlyfsTer7
NM_001354901.1:c.7787_7788del	NP_001341830.1:p.Glu2596GlyfsTer7
NM_001354902.1:c.7691_7692del	NP_001341831.1:p.Glu2564GlyfsTer7
NM_001354903.1:c.7661_7662del	NP_001341832.1:p.Glu2554GlyfsTer7
NM_001354904.1:c.7586_7587del	NP_001341833.1:p.Glu2529GlyfsTer7
NM_001354905.1:c.7484_7485del	NP_001341834.1:p.Glu2495GlyfsTer7
NM_001354906.1:c.7115_7116del	NP_001341835.1:p.Glu2372GlyfsTer7
NM_000038.6:c.7964_7965del MANE Select	NP_000029.2:p.Glu2655GlyfsTer7
NM_001127510.3:c.7964_7965del	NP_001120982.1:p.Glu2655GlyfsTer7
NM_001127511.3:c.7910_7911del	NP_001120983.2:p.Glu2637GlyfsTer7
NM_001354895.2:c.7964_7965del	NP_001341824.1:p.Glu2655GlyfsTer7
NM_001354896.2:c.8018_8019del	NP_001341825.1:p.Glu2673GlyfsTer7
NM_001354897.2:c.7994_7995del	NP_001341826.1:p.Glu2665GlyfsTer7
NM_001354898.2:c.7889_7890del	NP_001341827.1:p.Glu2630GlyfsTer7
NM_001354899.2:c.7880_7881del	NP_001341828.1:p.Glu2627GlyfsTer7
NM_001354900.2:c.7841_7842del	NP_001341829.1:p.Glu2614GlyfsTer7
NM_001354901.2:c.7787_7788del	NP_001341830.1:p.Glu2596GlyfsTer7
NM_001354902.2:c.7691_7692del	NP_001341831.1:p.Glu2564GlyfsTer7
NM_001354903.2:c.7661_7662del	NP_001341832.1:p.Glu2554GlyfsTer7
NM_001354904.2:c.7586_7587del	NP_001341833.1:p.Glu2529GlyfsTer7
NM_001354905.2:c.7484_7485del	NP_001341834.1:p.Glu2495GlyfsTer7
NM_001354906.2:c.7115_7116del	NP_001341835.1:p.Glu2372GlyfsTer7