Canonical Allele Identifier: CA2580072583

Gene: APC

Linked Data

• ClinVar Variation Id: 1743812
• ClinVar RCV Id: RCV002340500 ; RCV003337401

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840479_112840489dup , CM000667.2:g.112840479_112840489dup	GRCh38
NC_000005.9:g.112176176_112176186dup , CM000667.1:g.112176176_112176186dup	GRCh37
NC_000005.8:g.112204075_112204085dup	NCBI36
NG_008481.4:g.152959_152969dup , LRG_130:g.152959_152969dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4939_4949dup	ENSP00000473355.2:p.Thr1651MetfsTer21
ENST00000505350.2:c.*4891_*4901dup	ENSP00000481752.1:n.*4891_*4901dup
ENST00000507379.6:c.4831_4841dup	ENSP00000423224.2:p.Thr1615MetfsTer21
ENST00000509732.6:c.4885_4895dup	ENSP00000426541.2:p.Thr1633MetfsTer21
ENST00000512211.7:c.4885_4895dup	ENSP00000423828.3:p.Thr1633MetfsTer21
ENST00000257430.9:c.4885_4895dup MANE Select	ENSP00000257430.4:p.Thr1633MetfsTer21
ENST00000257430.8:c.4885_4895dup	ENSP00000257430.4:p.Thr1633MetfsTer21
ENST00000508376.6:c.4885_4895dup	ENSP00000427089.2:p.Thr1633MetfsTer21
ENST00000508624.5:c.*4207_*4217dup	ENSP00000424265.1:n.*4207_*4217dup
ENST00000520401.1:c.230+11507_230+11517dup
NM_000038.5:c.4885_4895dup	NP_000029.2:p.Thr1633MetfsTer21
NM_001127510.2:c.4885_4895dup	NP_001120982.1:p.Thr1633MetfsTer21
NM_001127511.2:c.4831_4841dup	NP_001120983.2:p.Thr1615MetfsTer21
NM_001354895.1:c.4885_4895dup	NP_001341824.1:p.Thr1633MetfsTer21
NM_001354896.1:c.4939_4949dup	NP_001341825.1:p.Thr1651MetfsTer21
NM_001354897.1:c.4915_4925dup	NP_001341826.1:p.Thr1643MetfsTer21
NM_001354898.1:c.4810_4820dup	NP_001341827.1:p.Thr1608MetfsTer21
NM_001354899.1:c.4801_4811dup	NP_001341828.1:p.Thr1605MetfsTer21
NM_001354900.1:c.4762_4772dup	NP_001341829.1:p.Thr1592MetfsTer21
NM_001354901.1:c.4708_4718dup	NP_001341830.1:p.Thr1574MetfsTer21
NM_001354902.1:c.4612_4622dup	NP_001341831.1:p.Thr1542MetfsTer21
NM_001354903.1:c.4582_4592dup	NP_001341832.1:p.Thr1532MetfsTer21
NM_001354904.1:c.4507_4517dup	NP_001341833.1:p.Thr1507MetfsTer21
NM_001354905.1:c.4405_4415dup	NP_001341834.1:p.Thr1473MetfsTer21
NM_001354906.1:c.4036_4046dup	NP_001341835.1:p.Thr1350MetfsTer21
NM_000038.6:c.4885_4895dup MANE Select	NP_000029.2:p.Thr1633MetfsTer21
NM_001127510.3:c.4885_4895dup	NP_001120982.1:p.Thr1633MetfsTer21
NM_001127511.3:c.4831_4841dup	NP_001120983.2:p.Thr1615MetfsTer21
NM_001354895.2:c.4885_4895dup	NP_001341824.1:p.Thr1633MetfsTer21
NM_001354896.2:c.4939_4949dup	NP_001341825.1:p.Thr1651MetfsTer21
NM_001354897.2:c.4915_4925dup	NP_001341826.1:p.Thr1643MetfsTer21
NM_001354898.2:c.4810_4820dup	NP_001341827.1:p.Thr1608MetfsTer21
NM_001354899.2:c.4801_4811dup	NP_001341828.1:p.Thr1605MetfsTer21
NM_001354900.2:c.4762_4772dup	NP_001341829.1:p.Thr1592MetfsTer21
NM_001354901.2:c.4708_4718dup	NP_001341830.1:p.Thr1574MetfsTer21
NM_001354902.2:c.4612_4622dup	NP_001341831.1:p.Thr1542MetfsTer21
NM_001354903.2:c.4582_4592dup	NP_001341832.1:p.Thr1532MetfsTer21
NM_001354904.2:c.4507_4517dup	NP_001341833.1:p.Thr1507MetfsTer21
NM_001354905.2:c.4405_4415dup	NP_001341834.1:p.Thr1473MetfsTer21
NM_001354906.2:c.4036_4046dup	NP_001341835.1:p.Thr1350MetfsTer21