Canonical Allele Identifier: CA446208834

Gene: APC

Linked Data

• ClinVar Variation Id: 2583276
• ClinVar RCV Id: RCV003336947
• gnomAD v4: 5-112840978-C-CA
• COSMIC: COSM18882
• MyVariant Identifiers: chr5:g.112176677_112176678insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840984dup , CM000667.2:g.112840984dup	GRCh38
NC_000005.9:g.112176681dup , CM000667.1:g.112176681dup	GRCh37
NC_000005.8:g.112204580dup	NCBI36
NG_008481.4:g.153464dup , LRG_130:g.153464dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.5444dup	ENSP00000473355.2:p.Asn1815LysfsTer2
ENST00000505350.2:c.*5396dup	ENSP00000481752.1:n.*5396dup
ENST00000507379.6:c.5336dup	ENSP00000423224.2:p.Asn1779LysfsTer2
ENST00000509732.6:c.5390dup	ENSP00000426541.2:p.Asn1797LysfsTer2
ENST00000512211.7:c.5390dup	ENSP00000423828.3:p.Asn1797LysfsTer2
ENST00000257430.9:c.5390dup MANE Select	ENSP00000257430.4:p.Asn1797LysfsTer2
ENST00000257430.8:c.5390dup	ENSP00000257430.4:p.Asn1797LysfsTer2
ENST00000508376.6:c.5390dup	ENSP00000427089.2:p.Asn1797LysfsTer2
ENST00000508624.5:c.*4712dup	ENSP00000424265.1:n.*4712dup
ENST00000520401.1:c.230+12012dup
NM_000038.5:c.5390dup	NP_000029.2:p.Asn1797LysfsTer2
NM_001127510.2:c.5390dup	NP_001120982.1:p.Asn1797LysfsTer2
NM_001127511.2:c.5336dup	NP_001120983.2:p.Asn1779LysfsTer2
NM_001354895.1:c.5390dup	NP_001341824.1:p.Asn1797LysfsTer2
NM_001354896.1:c.5444dup	NP_001341825.1:p.Asn1815LysfsTer2
NM_001354897.1:c.5420dup	NP_001341826.1:p.Asn1807LysfsTer2
NM_001354898.1:c.5315dup	NP_001341827.1:p.Asn1772LysfsTer2
NM_001354899.1:c.5306dup	NP_001341828.1:p.Asn1769LysfsTer2
NM_001354900.1:c.5267dup	NP_001341829.1:p.Asn1756LysfsTer2
NM_001354901.1:c.5213dup	NP_001341830.1:p.Asn1738LysfsTer2
NM_001354902.1:c.5117dup	NP_001341831.1:p.Asn1706LysfsTer2
NM_001354903.1:c.5087dup	NP_001341832.1:p.Asn1696LysfsTer2
NM_001354904.1:c.5012dup	NP_001341833.1:p.Asn1671LysfsTer2
NM_001354905.1:c.4910dup	NP_001341834.1:p.Asn1637LysfsTer2
NM_001354906.1:c.4541dup	NP_001341835.1:p.Asn1514LysfsTer2
NM_000038.6:c.5390dup MANE Select	NP_000029.2:p.Asn1797LysfsTer2
NM_001127510.3:c.5390dup	NP_001120982.1:p.Asn1797LysfsTer2
NM_001127511.3:c.5336dup	NP_001120983.2:p.Asn1779LysfsTer2
NM_001354895.2:c.5390dup	NP_001341824.1:p.Asn1797LysfsTer2
NM_001354896.2:c.5444dup	NP_001341825.1:p.Asn1815LysfsTer2
NM_001354897.2:c.5420dup	NP_001341826.1:p.Asn1807LysfsTer2
NM_001354898.2:c.5315dup	NP_001341827.1:p.Asn1772LysfsTer2
NM_001354899.2:c.5306dup	NP_001341828.1:p.Asn1769LysfsTer2
NM_001354900.2:c.5267dup	NP_001341829.1:p.Asn1756LysfsTer2
NM_001354901.2:c.5213dup	NP_001341830.1:p.Asn1738LysfsTer2
NM_001354902.2:c.5117dup	NP_001341831.1:p.Asn1706LysfsTer2
NM_001354903.2:c.5087dup	NP_001341832.1:p.Asn1696LysfsTer2
NM_001354904.2:c.5012dup	NP_001341833.1:p.Asn1671LysfsTer2
NM_001354905.2:c.4910dup	NP_001341834.1:p.Asn1637LysfsTer2
NM_001354906.2:c.4541dup	NP_001341835.1:p.Asn1514LysfsTer2