Canonical Allele Identifier: CA446206608

Gene: APC

Linked Data

• ClinVar Variation Id: 956937
• ClinVar RCV Id: RCV003538626
• dbSNP Id: rs1765716533
• gnomAD v4: 5-112840182-G-GA
• COSMIC: COSM19697 ; COSM98435
• MyVariant Identifiers: chr5:g.112175880_112175881insA (hg19)
• PubMed: PMID:11247896 ; PMID:20685668

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840186dup , CM000667.2:g.112840186dup	GRCh38
NC_000005.9:g.112175883dup , CM000667.1:g.112175883dup	GRCh37
NC_000005.8:g.112203782dup	NCBI36
NG_008481.4:g.152666dup , LRG_130:g.152666dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4646dup	ENSP00000473355.2:p.Asn1549LysfsTer2
ENST00000505350.2:c.*4598dup	ENSP00000481752.1:n.*4598dup
ENST00000507379.6:c.4538dup	ENSP00000423224.2:p.Asn1513LysfsTer2
ENST00000509732.6:c.4592dup	ENSP00000426541.2:p.Asn1531LysfsTer2
ENST00000512211.7:c.4592dup	ENSP00000423828.3:p.Asn1531LysfsTer2
ENST00000257430.9:c.4592dup MANE Select	ENSP00000257430.4:p.Asn1531LysfsTer2
ENST00000257430.8:c.4592dup	ENSP00000257430.4:p.Asn1531LysfsTer2
ENST00000508376.6:c.4592dup	ENSP00000427089.2:p.Asn1531LysfsTer2
ENST00000508624.5:c.*3914dup	ENSP00000424265.1:n.*3914dup
ENST00000520401.1:c.230+11214dup
NM_000038.5:c.4592dup	NP_000029.2:p.Asn1531LysfsTer2
NM_001127510.2:c.4592dup	NP_001120982.1:p.Asn1531LysfsTer2
NM_001127511.2:c.4538dup	NP_001120983.2:p.Asn1513LysfsTer2
NM_001354895.1:c.4592dup	NP_001341824.1:p.Asn1531LysfsTer2
NM_001354896.1:c.4646dup	NP_001341825.1:p.Asn1549LysfsTer2
NM_001354897.1:c.4622dup	NP_001341826.1:p.Asn1541LysfsTer2
NM_001354898.1:c.4517dup	NP_001341827.1:p.Asn1506LysfsTer2
NM_001354899.1:c.4508dup	NP_001341828.1:p.Asn1503LysfsTer2
NM_001354900.1:c.4469dup	NP_001341829.1:p.Asn1490LysfsTer2
NM_001354901.1:c.4415dup	NP_001341830.1:p.Asn1472LysfsTer2
NM_001354902.1:c.4319dup	NP_001341831.1:p.Asn1440LysfsTer2
NM_001354903.1:c.4289dup	NP_001341832.1:p.Asn1430LysfsTer2
NM_001354904.1:c.4214dup	NP_001341833.1:p.Asn1405LysfsTer2
NM_001354905.1:c.4112dup	NP_001341834.1:p.Asn1371LysfsTer2
NM_001354906.1:c.3743dup	NP_001341835.1:p.Asn1248LysfsTer2
NM_000038.6:c.4592dup MANE Select	NP_000029.2:p.Asn1531LysfsTer2
NM_001127510.3:c.4592dup	NP_001120982.1:p.Asn1531LysfsTer2
NM_001127511.3:c.4538dup	NP_001120983.2:p.Asn1513LysfsTer2
NM_001354895.2:c.4592dup	NP_001341824.1:p.Asn1531LysfsTer2
NM_001354896.2:c.4646dup	NP_001341825.1:p.Asn1549LysfsTer2
NM_001354897.2:c.4622dup	NP_001341826.1:p.Asn1541LysfsTer2
NM_001354898.2:c.4517dup	NP_001341827.1:p.Asn1506LysfsTer2
NM_001354899.2:c.4508dup	NP_001341828.1:p.Asn1503LysfsTer2
NM_001354900.2:c.4469dup	NP_001341829.1:p.Asn1490LysfsTer2
NM_001354901.2:c.4415dup	NP_001341830.1:p.Asn1472LysfsTer2
NM_001354902.2:c.4319dup	NP_001341831.1:p.Asn1440LysfsTer2
NM_001354903.2:c.4289dup	NP_001341832.1:p.Asn1430LysfsTer2
NM_001354904.2:c.4214dup	NP_001341833.1:p.Asn1405LysfsTer2
NM_001354905.2:c.4112dup	NP_001341834.1:p.Asn1371LysfsTer2
NM_001354906.2:c.3743dup	NP_001341835.1:p.Asn1248LysfsTer2