Canonical Allele Identifier: CA042335

Gene: APC

Linked Data

• ClinVar Variation Id: 548902
• ClinVar RCV Id: RCV000663237 ; RCV003316795
• dbSNP Id: rs779014936
• ExAC: 5:112176891 T / TTGA
• gnomAD v2: 5-112176891-T-TTGA
• gnomAD v4: 5-112841194-T-TTGA
• COSMIC: COSM1059613
• MyVariant Identifiers: chr5:g.112176903_112176905dup (hg19) ; chr5:g.112176894_112176895insTGA (hg19) ; chr5:g.112176891_112176892insTGA (hg19) ; chr5:g.112841206_112841208dup (hg38) ; chr5:g.112841197_112841198insTGA (hg38) ; chr5:g.112841194_112841195insTGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841206_112841208dup , CM000667.2:g.112841206_112841208dup	GRCh38
NC_000005.9:g.112176903_112176905dup , CM000667.1:g.112176903_112176905dup	GRCh37
NC_000005.8:g.112204802_112204804dup	NCBI36
NG_008481.4:g.153686_153688dup , LRG_130:g.153686_153688dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5666_5668dup	ENSP00000473355.2:p.Asp1889_Val1890insAsp
ENST00000505350.2:c.*5618_*5620dup	ENSP00000481752.1:n.*5618_*5620dup
ENST00000507379.6:c.5558_5560dup	ENSP00000423224.2:p.Asp1853_Val1854insAsp
ENST00000509732.6:c.5612_5614dup	ENSP00000426541.2:p.Asp1871_Val1872insAsp
ENST00000512211.7:c.5612_5614dup	ENSP00000423828.3:p.Asp1871_Val1872insAsp
ENST00000257430.9:c.5612_5614dup MANE Select	ENSP00000257430.4:p.Asp1871_Val1872insAsp
ENST00000257430.8:c.5612_5614dup	ENSP00000257430.4:p.Asp1871_Val1872insAsp
ENST00000508376.6:c.5612_5614dup	ENSP00000427089.2:p.Asp1871_Val1872insAsp
ENST00000508624.5:c.*4934_*4936dup	ENSP00000424265.1:n.*4934_*4936dup
ENST00000520401.1:c.230+12234_230+12236dup
NM_000038.5:c.5612_5614dup	NP_000029.2:p.Asp1871_Val1872insAsp
NM_001127510.2:c.5612_5614dup	NP_001120982.1:p.Asp1871_Val1872insAsp
NM_001127511.2:c.5558_5560dup	NP_001120983.2:p.Asp1853_Val1854insAsp
NM_001354895.1:c.5612_5614dup	NP_001341824.1:p.Asp1871_Val1872insAsp
NM_001354896.1:c.5666_5668dup	NP_001341825.1:p.Asp1889_Val1890insAsp
NM_001354897.1:c.5642_5644dup	NP_001341826.1:p.Asp1881_Val1882insAsp
NM_001354898.1:c.5537_5539dup	NP_001341827.1:p.Asp1846_Val1847insAsp
NM_001354899.1:c.5528_5530dup	NP_001341828.1:p.Asp1843_Val1844insAsp
NM_001354900.1:c.5489_5491dup	NP_001341829.1:p.Asp1830_Val1831insAsp
NM_001354901.1:c.5435_5437dup	NP_001341830.1:p.Asp1812_Val1813insAsp
NM_001354902.1:c.5339_5341dup	NP_001341831.1:p.Asp1780_Val1781insAsp
NM_001354903.1:c.5309_5311dup	NP_001341832.1:p.Asp1770_Val1771insAsp
NM_001354904.1:c.5234_5236dup	NP_001341833.1:p.Asp1745_Val1746insAsp
NM_001354905.1:c.5132_5134dup	NP_001341834.1:p.Asp1711_Val1712insAsp
NM_001354906.1:c.4763_4765dup	NP_001341835.1:p.Asp1588_Val1589insAsp
NM_000038.6:c.5612_5614dup MANE Select	NP_000029.2:p.Asp1871_Val1872insAsp
NM_001127510.3:c.5612_5614dup	NP_001120982.1:p.Asp1871_Val1872insAsp
NM_001127511.3:c.5558_5560dup	NP_001120983.2:p.Asp1853_Val1854insAsp
NM_001354895.2:c.5612_5614dup	NP_001341824.1:p.Asp1871_Val1872insAsp
NM_001354896.2:c.5666_5668dup	NP_001341825.1:p.Asp1889_Val1890insAsp
NM_001354897.2:c.5642_5644dup	NP_001341826.1:p.Asp1881_Val1882insAsp
NM_001354898.2:c.5537_5539dup	NP_001341827.1:p.Asp1846_Val1847insAsp
NM_001354899.2:c.5528_5530dup	NP_001341828.1:p.Asp1843_Val1844insAsp
NM_001354900.2:c.5489_5491dup	NP_001341829.1:p.Asp1830_Val1831insAsp
NM_001354901.2:c.5435_5437dup	NP_001341830.1:p.Asp1812_Val1813insAsp
NM_001354902.2:c.5339_5341dup	NP_001341831.1:p.Asp1780_Val1781insAsp
NM_001354903.2:c.5309_5311dup	NP_001341832.1:p.Asp1770_Val1771insAsp
NM_001354904.2:c.5234_5236dup	NP_001341833.1:p.Asp1745_Val1746insAsp
NM_001354905.2:c.5132_5134dup	NP_001341834.1:p.Asp1711_Val1712insAsp
NM_001354906.2:c.4763_4765dup	NP_001341835.1:p.Asp1588_Val1589insAsp