Canonical Allele Identifier: CA1139659018

Gene: APC

Linked Data

• ClinVar Variation Id: 948306
• ClinVar RCV Id: RCV003650736
• dbSNP Id: rs1765890048

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840830_112841135del , CM000667.2:g.112840830_112841135del	GRCh38
NC_000005.9:g.112176527_112176832del , CM000667.1:g.112176527_112176832del	GRCh37
NC_000005.8:g.112204426_112204731del	NCBI36
NG_008481.4:g.153310_153615del , LRG_130:g.153310_153615del

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.5290_5595del	ENSP00000473355.2:p.Ile1764_Thr1865del
ENST00000505350.2:c.*5242_*5547del	ENSP00000481752.1:n.*5242_*5547del
ENST00000507379.6:c.5182_5487del	ENSP00000423224.2:p.Ile1728_Thr1829del
ENST00000509732.6:c.5236_5541del	ENSP00000426541.2:p.Ile1746_Thr1847del
ENST00000512211.7:c.5236_5541del	ENSP00000423828.3:p.Ile1746_Thr1847del
ENST00000257430.9:c.5236_5541del MANE Select	ENSP00000257430.4:p.Ile1746_Thr1847del
ENST00000257430.8:c.5236_5541del	ENSP00000257430.4:p.Ile1746_Thr1847del
ENST00000508376.6:c.5236_5541del	ENSP00000427089.2:p.Ile1746_Thr1847del
ENST00000508624.5:c.*4558_*4863del	ENSP00000424265.1:n.*4558_*4863del
ENST00000520401.1:c.230+11858_230+12163del
NM_000038.5:c.5236_5541del	NP_000029.2:p.Ile1746_Thr1847del
NM_001127510.2:c.5236_5541del	NP_001120982.1:p.Ile1746_Thr1847del
NM_001127511.2:c.5182_5487del	NP_001120983.2:p.Ile1728_Thr1829del
NM_001354895.1:c.5236_5541del	NP_001341824.1:p.Ile1746_Thr1847del
NM_001354896.1:c.5290_5595del	NP_001341825.1:p.Ile1764_Thr1865del
NM_001354897.1:c.5266_5571del	NP_001341826.1:p.Ile1756_Thr1857del
NM_001354898.1:c.5161_5466del	NP_001341827.1:p.Ile1721_Thr1822del
NM_001354899.1:c.5152_5457del	NP_001341828.1:p.Ile1718_Thr1819del
NM_001354900.1:c.5113_5418del	NP_001341829.1:p.Ile1705_Thr1806del
NM_001354901.1:c.5059_5364del	NP_001341830.1:p.Ile1687_Thr1788del
NM_001354902.1:c.4963_5268del	NP_001341831.1:p.Ile1655_Thr1756del
NM_001354903.1:c.4933_5238del	NP_001341832.1:p.Ile1645_Thr1746del
NM_001354904.1:c.4858_5163del	NP_001341833.1:p.Ile1620_Thr1721del
NM_001354905.1:c.4756_5061del	NP_001341834.1:p.Ile1586_Thr1687del
NM_001354906.1:c.4387_4692del	NP_001341835.1:p.Ile1463_Thr1564del
NM_000038.6:c.5236_5541del MANE Select	NP_000029.2:p.Ile1746_Thr1847del
NM_001127510.3:c.5236_5541del	NP_001120982.1:p.Ile1746_Thr1847del
NM_001127511.3:c.5182_5487del	NP_001120983.2:p.Ile1728_Thr1829del
NM_001354895.2:c.5236_5541del	NP_001341824.1:p.Ile1746_Thr1847del
NM_001354896.2:c.5290_5595del	NP_001341825.1:p.Ile1764_Thr1865del
NM_001354897.2:c.5266_5571del	NP_001341826.1:p.Ile1756_Thr1857del
NM_001354898.2:c.5161_5466del	NP_001341827.1:p.Ile1721_Thr1822del
NM_001354899.2:c.5152_5457del	NP_001341828.1:p.Ile1718_Thr1819del
NM_001354900.2:c.5113_5418del	NP_001341829.1:p.Ile1705_Thr1806del
NM_001354901.2:c.5059_5364del	NP_001341830.1:p.Ile1687_Thr1788del
NM_001354902.2:c.4963_5268del	NP_001341831.1:p.Ile1655_Thr1756del
NM_001354903.2:c.4933_5238del	NP_001341832.1:p.Ile1645_Thr1746del
NM_001354904.2:c.4858_5163del	NP_001341833.1:p.Ile1620_Thr1721del
NM_001354905.2:c.4756_5061del	NP_001341834.1:p.Ile1586_Thr1687del
NM_001354906.2:c.4387_4692del	NP_001341835.1:p.Ile1463_Thr1564del