Canonical Allele Identifier: CA2573138686

Gene: APC

Linked Data

• ClinVar Variation Id: 1458369
• ClinVar RCV Id: RCV003772954
• dbSNP Id: rs2149954021

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841574_112841577dup , CM000667.2:g.112841574_112841577dup	GRCh38
NC_000005.9:g.112177271_112177274dup , CM000667.1:g.112177271_112177274dup	GRCh37
NC_000005.8:g.112205170_112205173dup	NCBI36
NG_008481.4:g.154054_154057dup , LRG_130:g.154054_154057dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.6034_6037dup	ENSP00000473355.2:p.Ser2013Ter
ENST00000505350.2:c.*5986_*5989dup	ENSP00000481752.1:n.*5986_*5989dup
ENST00000507379.6:c.5926_5929dup	ENSP00000423224.2:p.Ser1977Ter
ENST00000509732.6:c.5980_5983dup	ENSP00000426541.2:p.Ser1995Ter
ENST00000512211.7:c.5980_5983dup	ENSP00000423828.3:p.Ser1995Ter
ENST00000257430.9:c.5980_5983dup MANE Select	ENSP00000257430.4:p.Ser1995Ter
ENST00000257430.8:c.5980_5983dup	ENSP00000257430.4:p.Ser1995Ter
ENST00000508376.6:c.5980_5983dup	ENSP00000427089.2:p.Ser1995Ter
ENST00000508624.5:c.*5302_*5305dup	ENSP00000424265.1:n.*5302_*5305dup
ENST00000520401.1:c.230+12602_230+12605dup
NM_000038.5:c.5980_5983dup	NP_000029.2:p.Ser1995Ter
NM_001127510.2:c.5980_5983dup	NP_001120982.1:p.Ser1995Ter
NM_001127511.2:c.5926_5929dup	NP_001120983.2:p.Ser1977Ter
NM_001354895.1:c.5980_5983dup	NP_001341824.1:p.Ser1995Ter
NM_001354896.1:c.6034_6037dup	NP_001341825.1:p.Ser2013Ter
NM_001354897.1:c.6010_6013dup	NP_001341826.1:p.Ser2005Ter
NM_001354898.1:c.5905_5908dup	NP_001341827.1:p.Ser1970Ter
NM_001354899.1:c.5896_5899dup	NP_001341828.1:p.Ser1967Ter
NM_001354900.1:c.5857_5860dup	NP_001341829.1:p.Ser1954Ter
NM_001354901.1:c.5803_5806dup	NP_001341830.1:p.Ser1936Ter
NM_001354902.1:c.5707_5710dup	NP_001341831.1:p.Ser1904Ter
NM_001354903.1:c.5677_5680dup	NP_001341832.1:p.Ser1894Ter
NM_001354904.1:c.5602_5605dup	NP_001341833.1:p.Ser1869Ter
NM_001354905.1:c.5500_5503dup	NP_001341834.1:p.Ser1835Ter
NM_001354906.1:c.5131_5134dup	NP_001341835.1:p.Ser1712Ter
NM_000038.6:c.5980_5983dup MANE Select	NP_000029.2:p.Ser1995Ter
NM_001127510.3:c.5980_5983dup	NP_001120982.1:p.Ser1995Ter
NM_001127511.3:c.5926_5929dup	NP_001120983.2:p.Ser1977Ter
NM_001354895.2:c.5980_5983dup	NP_001341824.1:p.Ser1995Ter
NM_001354896.2:c.6034_6037dup	NP_001341825.1:p.Ser2013Ter
NM_001354897.2:c.6010_6013dup	NP_001341826.1:p.Ser2005Ter
NM_001354898.2:c.5905_5908dup	NP_001341827.1:p.Ser1970Ter
NM_001354899.2:c.5896_5899dup	NP_001341828.1:p.Ser1967Ter
NM_001354900.2:c.5857_5860dup	NP_001341829.1:p.Ser1954Ter
NM_001354901.2:c.5803_5806dup	NP_001341830.1:p.Ser1936Ter
NM_001354902.2:c.5707_5710dup	NP_001341831.1:p.Ser1904Ter
NM_001354903.2:c.5677_5680dup	NP_001341832.1:p.Ser1894Ter
NM_001354904.2:c.5602_5605dup	NP_001341833.1:p.Ser1869Ter
NM_001354905.2:c.5500_5503dup	NP_001341834.1:p.Ser1835Ter
NM_001354906.2:c.5131_5134dup	NP_001341835.1:p.Ser1712Ter