Canonical Allele Identifier: CA1573474669

Gene: APC

Linked Data

• ClinVar Variation Id: 1018845
• ClinVar RCV Id: RCV003770702
• dbSNP Id: rs1765876709

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840795_112840796delinsGT , CM000667.2:g.112840795_112840796delinsGT	GRCh38
NC_000005.9:g.112176492_112176493delinsGT , CM000667.1:g.112176492_112176493delinsGT	GRCh37
NC_000005.8:g.112204391_112204392delinsGT	NCBI36
NG_008481.4:g.153275_153276delinsGT , LRG_130:g.153275_153276delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5255_5256delinsGT	ENSP00000473355.2:p.Lys1752Ser
ENST00000505350.2:c.*5207_*5208delinsGT	ENSP00000481752.1:n.*5207_*5208delinsGT
ENST00000507379.6:c.5147_5148delinsGT	ENSP00000423224.2:p.Lys1716Ser
ENST00000509732.6:c.5201_5202delinsGT	ENSP00000426541.2:p.Lys1734Ser
ENST00000512211.7:c.5201_5202delinsGT	ENSP00000423828.3:p.Lys1734Ser
ENST00000257430.9:c.5201_5202delinsGT MANE Select	ENSP00000257430.4:p.Lys1734Ser
ENST00000257430.8:c.5201_5202delinsGT	ENSP00000257430.4:p.Lys1734Ser
ENST00000508376.6:c.5201_5202delinsGT	ENSP00000427089.2:p.Lys1734Ser
ENST00000508624.5:c.*4523_*4524delinsGT	ENSP00000424265.1:n.*4523_*4524delinsGT
ENST00000520401.1:c.230+11823_230+11824delinsGT
NM_000038.5:c.5201_5202delinsGT	NP_000029.2:p.Lys1734Ser
NM_001127510.2:c.5201_5202delinsGT	NP_001120982.1:p.Lys1734Ser
NM_001127511.2:c.5147_5148delinsGT	NP_001120983.2:p.Lys1716Ser
NM_001354895.1:c.5201_5202delinsGT	NP_001341824.1:p.Lys1734Ser
NM_001354896.1:c.5255_5256delinsGT	NP_001341825.1:p.Lys1752Ser
NM_001354897.1:c.5231_5232delinsGT	NP_001341826.1:p.Lys1744Ser
NM_001354898.1:c.5126_5127delinsGT	NP_001341827.1:p.Lys1709Ser
NM_001354899.1:c.5117_5118delinsGT	NP_001341828.1:p.Lys1706Ser
NM_001354900.1:c.5078_5079delinsGT	NP_001341829.1:p.Lys1693Ser
NM_001354901.1:c.5024_5025delinsGT	NP_001341830.1:p.Lys1675Ser
NM_001354902.1:c.4928_4929delinsGT	NP_001341831.1:p.Lys1643Ser
NM_001354903.1:c.4898_4899delinsGT	NP_001341832.1:p.Lys1633Ser
NM_001354904.1:c.4823_4824delinsGT	NP_001341833.1:p.Lys1608Ser
NM_001354905.1:c.4721_4722delinsGT	NP_001341834.1:p.Lys1574Ser
NM_001354906.1:c.4352_4353delinsGT	NP_001341835.1:p.Lys1451Ser
NM_000038.6:c.5201_5202delinsGT MANE Select	NP_000029.2:p.Lys1734Ser
NM_001127510.3:c.5201_5202delinsGT	NP_001120982.1:p.Lys1734Ser
NM_001127511.3:c.5147_5148delinsGT	NP_001120983.2:p.Lys1716Ser
NM_001354895.2:c.5201_5202delinsGT	NP_001341824.1:p.Lys1734Ser
NM_001354896.2:c.5255_5256delinsGT	NP_001341825.1:p.Lys1752Ser
NM_001354897.2:c.5231_5232delinsGT	NP_001341826.1:p.Lys1744Ser
NM_001354898.2:c.5126_5127delinsGT	NP_001341827.1:p.Lys1709Ser
NM_001354899.2:c.5117_5118delinsGT	NP_001341828.1:p.Lys1706Ser
NM_001354900.2:c.5078_5079delinsGT	NP_001341829.1:p.Lys1693Ser
NM_001354901.2:c.5024_5025delinsGT	NP_001341830.1:p.Lys1675Ser
NM_001354902.2:c.4928_4929delinsGT	NP_001341831.1:p.Lys1643Ser
NM_001354903.2:c.4898_4899delinsGT	NP_001341832.1:p.Lys1633Ser
NM_001354904.2:c.4823_4824delinsGT	NP_001341833.1:p.Lys1608Ser
NM_001354905.2:c.4721_4722delinsGT	NP_001341834.1:p.Lys1574Ser
NM_001354906.2:c.4352_4353delinsGT	NP_001341835.1:p.Lys1451Ser