Canonical Allele Identifier: CA2573138676

Gene: APC

Linked Data

• ClinVar Variation Id: 1368326
• ClinVar RCV Id: RCV003772578
• dbSNP Id: rs2149990719

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843215_112843219del , CM000667.2:g.112843215_112843219del	GRCh38
NC_000005.9:g.112178912_112178916del , CM000667.1:g.112178912_112178916del	GRCh37
NC_000005.8:g.112206811_112206815del	NCBI36
NG_008481.4:g.155695_155699del , LRG_130:g.155695_155699del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7675_7679del	ENSP00000473355.2:p.Ile2559Ter
ENST00000505350.2:c.*7627_*7631del	ENSP00000481752.1:n.*7627_*7631del
ENST00000507379.6:c.7567_7571del	ENSP00000423224.2:p.Ile2523Ter
ENST00000509732.6:c.7621_7625del	ENSP00000426541.2:p.Ile2541Ter
ENST00000512211.7:c.7621_7625del	ENSP00000423828.3:p.Ile2541Ter
ENST00000257430.9:c.7621_7625del MANE Select	ENSP00000257430.4:p.Ile2541Ter
ENST00000257430.8:c.7621_7625del	ENSP00000257430.4:p.Ile2541Ter
ENST00000508376.6:c.7621_7625del	ENSP00000427089.2:p.Ile2541Ter
ENST00000520401.1:c.231-13434_231-13430del
NM_000038.5:c.7621_7625del	NP_000029.2:p.Ile2541Ter
NM_001127510.2:c.7621_7625del	NP_001120982.1:p.Ile2541Ter
NM_001127511.2:c.7567_7571del	NP_001120983.2:p.Ile2523Ter
NM_001354895.1:c.7621_7625del	NP_001341824.1:p.Ile2541Ter
NM_001354896.1:c.7675_7679del	NP_001341825.1:p.Ile2559Ter
NM_001354897.1:c.7651_7655del	NP_001341826.1:p.Ile2551Ter
NM_001354898.1:c.7546_7550del	NP_001341827.1:p.Ile2516Ter
NM_001354899.1:c.7537_7541del	NP_001341828.1:p.Ile2513Ter
NM_001354900.1:c.7498_7502del	NP_001341829.1:p.Ile2500Ter
NM_001354901.1:c.7444_7448del	NP_001341830.1:p.Ile2482Ter
NM_001354902.1:c.7348_7352del	NP_001341831.1:p.Ile2450Ter
NM_001354903.1:c.7318_7322del	NP_001341832.1:p.Ile2440Ter
NM_001354904.1:c.7243_7247del	NP_001341833.1:p.Ile2415Ter
NM_001354905.1:c.7141_7145del	NP_001341834.1:p.Ile2381Ter
NM_001354906.1:c.6772_6776del	NP_001341835.1:p.Ile2258Ter
NM_000038.6:c.7621_7625del MANE Select	NP_000029.2:p.Ile2541Ter
NM_001127510.3:c.7621_7625del	NP_001120982.1:p.Ile2541Ter
NM_001127511.3:c.7567_7571del	NP_001120983.2:p.Ile2523Ter
NM_001354895.2:c.7621_7625del	NP_001341824.1:p.Ile2541Ter
NM_001354896.2:c.7675_7679del	NP_001341825.1:p.Ile2559Ter
NM_001354897.2:c.7651_7655del	NP_001341826.1:p.Ile2551Ter
NM_001354898.2:c.7546_7550del	NP_001341827.1:p.Ile2516Ter
NM_001354899.2:c.7537_7541del	NP_001341828.1:p.Ile2513Ter
NM_001354900.2:c.7498_7502del	NP_001341829.1:p.Ile2500Ter
NM_001354901.2:c.7444_7448del	NP_001341830.1:p.Ile2482Ter
NM_001354902.2:c.7348_7352del	NP_001341831.1:p.Ile2450Ter
NM_001354903.2:c.7318_7322del	NP_001341832.1:p.Ile2440Ter
NM_001354904.2:c.7243_7247del	NP_001341833.1:p.Ile2415Ter
NM_001354905.2:c.7141_7145del	NP_001341834.1:p.Ile2381Ter
NM_001354906.2:c.6772_6776del	NP_001341835.1:p.Ile2258Ter