Canonical Allele Identifier: CA915943521

Gene: APC

Linked Data

• ClinVar Variation Id: 757607
• ClinVar RCV Id: RCV002382129 ; RCV003537360
• dbSNP Id: rs1580682156
• gnomAD v4: 5-112842993-CCAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842998_112843000del , CM000667.2:g.112842998_112843000del	GRCh38
NC_000005.9:g.112178695_112178697del , CM000667.1:g.112178695_112178697del	GRCh37
NC_000005.8:g.112206594_112206596del	NCBI36
NG_008481.4:g.155478_155480del , LRG_130:g.155478_155480del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7458_7460del	ENSP00000473355.2:p.Ser2487del
ENST00000505350.2:c.*7410_*7412del	ENSP00000481752.1:n.*7410_*7412del
ENST00000507379.6:c.7350_7352del	ENSP00000423224.2:p.Ser2451del
ENST00000509732.6:c.7404_7406del	ENSP00000426541.2:p.Ser2469del
ENST00000512211.7:c.7404_7406del	ENSP00000423828.3:p.Ser2469del
ENST00000257430.9:c.7404_7406del MANE Select	ENSP00000257430.4:p.Ser2469del
ENST00000257430.8:c.7404_7406del	ENSP00000257430.4:p.Ser2469del
ENST00000508376.6:c.7404_7406del	ENSP00000427089.2:p.Ser2469del
ENST00000520401.1:c.231-13651_231-13649del
NM_000038.5:c.7404_7406del	NP_000029.2:p.Ser2469del
NM_001127510.2:c.7404_7406del	NP_001120982.1:p.Ser2469del
NM_001127511.2:c.7350_7352del	NP_001120983.2:p.Ser2451del
NM_001354895.1:c.7404_7406del	NP_001341824.1:p.Ser2469del
NM_001354896.1:c.7458_7460del	NP_001341825.1:p.Ser2487del
NM_001354897.1:c.7434_7436del	NP_001341826.1:p.Ser2479del
NM_001354898.1:c.7329_7331del	NP_001341827.1:p.Ser2444del
NM_001354899.1:c.7320_7322del	NP_001341828.1:p.Ser2441del
NM_001354900.1:c.7281_7283del	NP_001341829.1:p.Ser2428del
NM_001354901.1:c.7227_7229del	NP_001341830.1:p.Ser2410del
NM_001354902.1:c.7131_7133del	NP_001341831.1:p.Ser2378del
NM_001354903.1:c.7101_7103del	NP_001341832.1:p.Ser2368del
NM_001354904.1:c.7026_7028del	NP_001341833.1:p.Ser2343del
NM_001354905.1:c.6924_6926del	NP_001341834.1:p.Ser2309del
NM_001354906.1:c.6555_6557del	NP_001341835.1:p.Ser2186del
NM_000038.6:c.7404_7406del MANE Select	NP_000029.2:p.Ser2469del
NM_001127510.3:c.7404_7406del	NP_001120982.1:p.Ser2469del
NM_001127511.3:c.7350_7352del	NP_001120983.2:p.Ser2451del
NM_001354895.2:c.7404_7406del	NP_001341824.1:p.Ser2469del
NM_001354896.2:c.7458_7460del	NP_001341825.1:p.Ser2487del
NM_001354897.2:c.7434_7436del	NP_001341826.1:p.Ser2479del
NM_001354898.2:c.7329_7331del	NP_001341827.1:p.Ser2444del
NM_001354899.2:c.7320_7322del	NP_001341828.1:p.Ser2441del
NM_001354900.2:c.7281_7283del	NP_001341829.1:p.Ser2428del
NM_001354901.2:c.7227_7229del	NP_001341830.1:p.Ser2410del
NM_001354902.2:c.7131_7133del	NP_001341831.1:p.Ser2378del
NM_001354903.2:c.7101_7103del	NP_001341832.1:p.Ser2368del
NM_001354904.2:c.7026_7028del	NP_001341833.1:p.Ser2343del
NM_001354905.2:c.6924_6926del	NP_001341834.1:p.Ser2309del
NM_001354906.2:c.6555_6557del	NP_001341835.1:p.Ser2186del