Canonical Allele Identifier: CA10578349

Gene: APC

Linked Data

• ClinVar Variation Id: 230713
• ClinVar RCV Id: RCV000214795 ; RCV000500122 ; RCV003534510
• dbSNP Id: rs876658724
• COSMIC: COSM5990136
• MyVariant Identifiers: chr5:g.112174358dupA (hg19) ; chr5:g.112838661dupA (hg38)
• PubMed: PMID:17604324 ; PMID:20685668 ; PMID:23159591

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838661dup , CM000667.2:g.112838661dup	GRCh38
NC_000005.9:g.112174358dup , CM000667.1:g.112174358dup	GRCh37
NC_000005.8:g.112202257dup	NCBI36
NG_008481.4:g.151141dup , LRG_130:g.151141dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2732dup	ENSP00000484935.2:n.2732dup
ENST00000504915.3:c.3121dup	ENSP00000473355.2:p.Thr1041AsnfsTer6
ENST00000505350.2:c.*3073dup	ENSP00000481752.1:n.*3073dup
ENST00000507379.6:c.3013dup	ENSP00000423224.2:p.Thr1005AsnfsTer6
ENST00000509732.6:c.3067dup	ENSP00000426541.2:p.Thr1023AsnfsTer6
ENST00000512211.7:c.3067dup	ENSP00000423828.3:p.Thr1023AsnfsTer6
ENST00000257430.9:c.3067dup MANE Select	ENSP00000257430.4:p.Thr1023AsnfsTer6
ENST00000257430.8:c.3067dup	ENSP00000257430.4:p.Thr1023AsnfsTer6
ENST00000502371.2:c.1420dup
ENST00000507379.5:c.3013dup	ENSP00000423224.1:p.Thr1005AsnfsTer6
ENST00000508376.6:c.3067dup	ENSP00000427089.2:p.Thr1023AsnfsTer6
ENST00000508624.5:c.*2389dup	ENSP00000424265.1:n.*2389dup
ENST00000512211.6:c.3067dup	ENSP00000423828.2:p.Thr1023AsnfsTer6
ENST00000520401.1:c.230+9689dup
NM_000038.5:c.3067dup	NP_000029.2:p.Thr1023AsnfsTer6
NM_001127510.2:c.3067dup	NP_001120982.1:p.Thr1023AsnfsTer6
NM_001127511.2:c.3013dup	NP_001120983.2:p.Thr1005AsnfsTer6
NM_001354895.1:c.3067dup	NP_001341824.1:p.Thr1023AsnfsTer6
NM_001354896.1:c.3121dup	NP_001341825.1:p.Thr1041AsnfsTer6
NM_001354897.1:c.3097dup	NP_001341826.1:p.Thr1033AsnfsTer6
NM_001354898.1:c.2992dup	NP_001341827.1:p.Thr998AsnfsTer6
NM_001354899.1:c.2983dup	NP_001341828.1:p.Thr995AsnfsTer6
NM_001354900.1:c.2944dup	NP_001341829.1:p.Thr982AsnfsTer6
NM_001354901.1:c.2890dup	NP_001341830.1:p.Thr964AsnfsTer6
NM_001354902.1:c.2794dup	NP_001341831.1:p.Thr932AsnfsTer6
NM_001354903.1:c.2764dup	NP_001341832.1:p.Thr922AsnfsTer6
NM_001354904.1:c.2689dup	NP_001341833.1:p.Thr897AsnfsTer6
NM_001354905.1:c.2587dup	NP_001341834.1:p.Thr863AsnfsTer6
NM_001354906.1:c.2218dup	NP_001341835.1:p.Thr740AsnfsTer6
NM_000038.6:c.3067dup MANE Select	NP_000029.2:p.Thr1023AsnfsTer6
NM_001127510.3:c.3067dup	NP_001120982.1:p.Thr1023AsnfsTer6
NM_001127511.3:c.3013dup	NP_001120983.2:p.Thr1005AsnfsTer6
NM_001354895.2:c.3067dup	NP_001341824.1:p.Thr1023AsnfsTer6
NM_001354896.2:c.3121dup	NP_001341825.1:p.Thr1041AsnfsTer6
NM_001354897.2:c.3097dup	NP_001341826.1:p.Thr1033AsnfsTer6
NM_001354898.2:c.2992dup	NP_001341827.1:p.Thr998AsnfsTer6
NM_001354899.2:c.2983dup	NP_001341828.1:p.Thr995AsnfsTer6
NM_001354900.2:c.2944dup	NP_001341829.1:p.Thr982AsnfsTer6
NM_001354901.2:c.2890dup	NP_001341830.1:p.Thr964AsnfsTer6
NM_001354902.2:c.2794dup	NP_001341831.1:p.Thr932AsnfsTer6
NM_001354903.2:c.2764dup	NP_001341832.1:p.Thr922AsnfsTer6
NM_001354904.2:c.2689dup	NP_001341833.1:p.Thr897AsnfsTer6
NM_001354905.2:c.2587dup	NP_001341834.1:p.Thr863AsnfsTer6
NM_001354906.2:c.2218dup	NP_001341835.1:p.Thr740AsnfsTer6