Canonical Allele Identifier: CA2580072939

Gene: APC

Linked Data

• ClinVar Variation Id: 1730249
• ClinVar RCV Id: RCV002326425

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838920del , CM000667.2:g.112838920del	GRCh38
NC_000005.9:g.112174617del , CM000667.1:g.112174617del	GRCh37
NC_000005.8:g.112202516del	NCBI36
NG_008481.4:g.151400del , LRG_130:g.151400del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2991del	ENSP00000484935.2:n.2991del
ENST00000504915.3:c.3380del	ENSP00000473355.2:p.Gly1127ValfsTer17
ENST00000505350.2:c.*3332del	ENSP00000481752.1:n.*3332del
ENST00000507379.6:c.3272del	ENSP00000423224.2:p.Gly1091ValfsTer17
ENST00000509732.6:c.3326del	ENSP00000426541.2:p.Gly1109ValfsTer17
ENST00000512211.7:c.3326del	ENSP00000423828.3:p.Gly1109ValfsTer17
ENST00000257430.9:c.3326del MANE Select	ENSP00000257430.4:p.Gly1109ValfsTer17
ENST00000257430.8:c.3326del	ENSP00000257430.4:p.Gly1109ValfsTer17
ENST00000502371.2:c.1679del
ENST00000507379.5:c.3272del	ENSP00000423224.1:p.Gly1091ValfsTer17
ENST00000508376.6:c.3326del	ENSP00000427089.2:p.Gly1109ValfsTer17
ENST00000508624.5:c.*2648del	ENSP00000424265.1:n.*2648del
ENST00000512211.6:c.3326del	ENSP00000423828.2:p.Gly1109ValfsTer17
ENST00000520401.1:c.230+9948del
NM_000038.5:c.3326del	NP_000029.2:p.Gly1109ValfsTer17
NM_001127510.2:c.3326del	NP_001120982.1:p.Gly1109ValfsTer17
NM_001127511.2:c.3272del	NP_001120983.2:p.Gly1091ValfsTer17
NM_001354895.1:c.3326del	NP_001341824.1:p.Gly1109ValfsTer17
NM_001354896.1:c.3380del	NP_001341825.1:p.Gly1127ValfsTer17
NM_001354897.1:c.3356del	NP_001341826.1:p.Gly1119ValfsTer17
NM_001354898.1:c.3251del	NP_001341827.1:p.Gly1084ValfsTer17
NM_001354899.1:c.3242del	NP_001341828.1:p.Gly1081ValfsTer17
NM_001354900.1:c.3203del	NP_001341829.1:p.Gly1068ValfsTer17
NM_001354901.1:c.3149del	NP_001341830.1:p.Gly1050ValfsTer17
NM_001354902.1:c.3053del	NP_001341831.1:p.Gly1018ValfsTer17
NM_001354903.1:c.3023del	NP_001341832.1:p.Gly1008ValfsTer17
NM_001354904.1:c.2948del	NP_001341833.1:p.Gly983ValfsTer17
NM_001354905.1:c.2846del	NP_001341834.1:p.Gly949ValfsTer17
NM_001354906.1:c.2477del	NP_001341835.1:p.Gly826ValfsTer17
NM_000038.6:c.3326del MANE Select	NP_000029.2:p.Gly1109ValfsTer17
NM_001127510.3:c.3326del	NP_001120982.1:p.Gly1109ValfsTer17
NM_001127511.3:c.3272del	NP_001120983.2:p.Gly1091ValfsTer17
NM_001354895.2:c.3326del	NP_001341824.1:p.Gly1109ValfsTer17
NM_001354896.2:c.3380del	NP_001341825.1:p.Gly1127ValfsTer17
NM_001354897.2:c.3356del	NP_001341826.1:p.Gly1119ValfsTer17
NM_001354898.2:c.3251del	NP_001341827.1:p.Gly1084ValfsTer17
NM_001354899.2:c.3242del	NP_001341828.1:p.Gly1081ValfsTer17
NM_001354900.2:c.3203del	NP_001341829.1:p.Gly1068ValfsTer17
NM_001354901.2:c.3149del	NP_001341830.1:p.Gly1050ValfsTer17
NM_001354902.2:c.3053del	NP_001341831.1:p.Gly1018ValfsTer17
NM_001354903.2:c.3023del	NP_001341832.1:p.Gly1008ValfsTer17
NM_001354904.2:c.2948del	NP_001341833.1:p.Gly983ValfsTer17
NM_001354905.2:c.2846del	NP_001341834.1:p.Gly949ValfsTer17
NM_001354906.2:c.2477del	NP_001341835.1:p.Gly826ValfsTer17