Canonical Allele Identifier: CA2580072800

Gene: APC

Linked Data

• ClinVar Variation Id: 1796277
• ClinVar RCV Id: RCV002441651 ; RCV003337412

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838401del , CM000667.2:g.112838401del	GRCh38
NC_000005.9:g.112174098del , CM000667.1:g.112174098del	GRCh37
NC_000005.8:g.112201997del	NCBI36
NG_008481.4:g.150881del , LRG_130:g.150881del

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.2472del	ENSP00000484935.2:n.2472del
ENST00000504915.3:c.2861del	ENSP00000473355.2:p.Asn954IlefsTer19
ENST00000505350.2:c.*2813del	ENSP00000481752.1:n.*2813del
ENST00000507379.6:c.2753del	ENSP00000423224.2:p.Asn918IlefsTer19
ENST00000509732.6:c.2807del	ENSP00000426541.2:p.Asn936IlefsTer19
ENST00000512211.7:c.2807del	ENSP00000423828.3:p.Asn936IlefsTer19
ENST00000257430.9:c.2807del MANE Select	ENSP00000257430.4:p.Asn936IlefsTer19
ENST00000257430.8:c.2807del	ENSP00000257430.4:p.Asn936IlefsTer19
ENST00000502371.2:c.1160del
ENST00000507379.5:c.2753del	ENSP00000423224.1:p.Asn918IlefsTer19
ENST00000508376.6:c.2807del	ENSP00000427089.2:p.Asn936IlefsTer19
ENST00000508624.5:c.*2129del	ENSP00000424265.1:n.*2129del
ENST00000512211.6:c.2807del	ENSP00000423828.2:p.Asn936IlefsTer19
ENST00000520401.1:c.230+9429del
NM_000038.5:c.2807del	NP_000029.2:p.Asn936IlefsTer19
NM_001127510.2:c.2807del	NP_001120982.1:p.Asn936IlefsTer19
NM_001127511.2:c.2753del	NP_001120983.2:p.Asn918IlefsTer19
NM_001354895.1:c.2807del	NP_001341824.1:p.Asn936IlefsTer19
NM_001354896.1:c.2861del	NP_001341825.1:p.Asn954IlefsTer19
NM_001354897.1:c.2837del	NP_001341826.1:p.Asn946IlefsTer19
NM_001354898.1:c.2732del	NP_001341827.1:p.Asn911IlefsTer19
NM_001354899.1:c.2723del	NP_001341828.1:p.Asn908IlefsTer19
NM_001354900.1:c.2684del	NP_001341829.1:p.Asn895IlefsTer19
NM_001354901.1:c.2630del	NP_001341830.1:p.Asn877IlefsTer19
NM_001354902.1:c.2534del	NP_001341831.1:p.Asn845IlefsTer19
NM_001354903.1:c.2504del	NP_001341832.1:p.Asn835IlefsTer19
NM_001354904.1:c.2429del	NP_001341833.1:p.Asn810IlefsTer19
NM_001354905.1:c.2327del	NP_001341834.1:p.Asn776IlefsTer19
NM_001354906.1:c.1958del	NP_001341835.1:p.Asn653IlefsTer19
NM_000038.6:c.2807del MANE Select	NP_000029.2:p.Asn936IlefsTer19
NM_001127510.3:c.2807del	NP_001120982.1:p.Asn936IlefsTer19
NM_001127511.3:c.2753del	NP_001120983.2:p.Asn918IlefsTer19
NM_001354895.2:c.2807del	NP_001341824.1:p.Asn936IlefsTer19
NM_001354896.2:c.2861del	NP_001341825.1:p.Asn954IlefsTer19
NM_001354897.2:c.2837del	NP_001341826.1:p.Asn946IlefsTer19
NM_001354898.2:c.2732del	NP_001341827.1:p.Asn911IlefsTer19
NM_001354899.2:c.2723del	NP_001341828.1:p.Asn908IlefsTer19
NM_001354900.2:c.2684del	NP_001341829.1:p.Asn895IlefsTer19
NM_001354901.2:c.2630del	NP_001341830.1:p.Asn877IlefsTer19
NM_001354902.2:c.2534del	NP_001341831.1:p.Asn845IlefsTer19
NM_001354903.2:c.2504del	NP_001341832.1:p.Asn835IlefsTer19
NM_001354904.2:c.2429del	NP_001341833.1:p.Asn810IlefsTer19
NM_001354905.2:c.2327del	NP_001341834.1:p.Asn776IlefsTer19
NM_001354906.2:c.1958del	NP_001341835.1:p.Asn653IlefsTer19