Canonical Allele Identifier: CA2580072562

Gene: APC

Linked Data

• ClinVar Variation Id: 2027179
• ClinVar RCV Id: RCV003742993

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840354_112840361dup , CM000667.2:g.112840354_112840361dup	GRCh38
NC_000005.9:g.112176051_112176058dup , CM000667.1:g.112176051_112176058dup	GRCh37
NC_000005.8:g.112203950_112203957dup	NCBI36
NG_008481.4:g.152834_152841dup , LRG_130:g.152834_152841dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4814_4821dup	ENSP00000473355.2:p.Lys1608HisfsTer?
ENST00000505350.2:c.*4766_*4773dup	ENSP00000481752.1:n.*4766_*4773dup
ENST00000507379.6:c.4706_4713dup	ENSP00000423224.2:p.Lys1572HisfsTer?
ENST00000509732.6:c.4760_4767dup	ENSP00000426541.2:p.Lys1590HisfsTer?
ENST00000512211.7:c.4760_4767dup	ENSP00000423828.3:p.Lys1590HisfsTer?
ENST00000257430.9:c.4760_4767dup MANE Select	ENSP00000257430.4:p.Lys1590HisfsTer?
ENST00000257430.8:c.4760_4767dup	ENSP00000257430.4:p.Lys1590HisfsTer?
ENST00000508376.6:c.4760_4767dup	ENSP00000427089.2:p.Lys1590HisfsTer?
ENST00000508624.5:c.*4082_*4089dup	ENSP00000424265.1:n.*4082_*4089dup
ENST00000520401.1:c.230+11382_230+11389dup
NM_000038.5:c.4760_4767dup	NP_000029.2:p.Lys1590HisfsTer?
NM_001127510.2:c.4760_4767dup	NP_001120982.1:p.Lys1590HisfsTer?
NM_001127511.2:c.4706_4713dup	NP_001120983.2:p.Lys1572HisfsTer?
NM_001354895.1:c.4760_4767dup	NP_001341824.1:p.Lys1590HisfsTer?
NM_001354896.1:c.4814_4821dup	NP_001341825.1:p.Lys1608HisfsTer?
NM_001354897.1:c.4790_4797dup	NP_001341826.1:p.Lys1600HisfsTer?
NM_001354898.1:c.4685_4692dup	NP_001341827.1:p.Lys1565HisfsTer?
NM_001354899.1:c.4676_4683dup	NP_001341828.1:p.Lys1562HisfsTer?
NM_001354900.1:c.4637_4644dup	NP_001341829.1:p.Lys1549HisfsTer?
NM_001354901.1:c.4583_4590dup	NP_001341830.1:p.Lys1531HisfsTer?
NM_001354902.1:c.4487_4494dup	NP_001341831.1:p.Lys1499HisfsTer?
NM_001354903.1:c.4457_4464dup	NP_001341832.1:p.Lys1489HisfsTer?
NM_001354904.1:c.4382_4389dup	NP_001341833.1:p.Lys1464HisfsTer?
NM_001354905.1:c.4280_4287dup	NP_001341834.1:p.Lys1430HisfsTer?
NM_001354906.1:c.3911_3918dup	NP_001341835.1:p.Lys1307HisfsTer?
NM_000038.6:c.4760_4767dup MANE Select	NP_000029.2:p.Lys1590HisfsTer?
NM_001127510.3:c.4760_4767dup	NP_001120982.1:p.Lys1590HisfsTer?
NM_001127511.3:c.4706_4713dup	NP_001120983.2:p.Lys1572HisfsTer?
NM_001354895.2:c.4760_4767dup	NP_001341824.1:p.Lys1590HisfsTer?
NM_001354896.2:c.4814_4821dup	NP_001341825.1:p.Lys1608HisfsTer?
NM_001354897.2:c.4790_4797dup	NP_001341826.1:p.Lys1600HisfsTer?
NM_001354898.2:c.4685_4692dup	NP_001341827.1:p.Lys1565HisfsTer?
NM_001354899.2:c.4676_4683dup	NP_001341828.1:p.Lys1562HisfsTer?
NM_001354900.2:c.4637_4644dup	NP_001341829.1:p.Lys1549HisfsTer?
NM_001354901.2:c.4583_4590dup	NP_001341830.1:p.Lys1531HisfsTer?
NM_001354902.2:c.4487_4494dup	NP_001341831.1:p.Lys1499HisfsTer?
NM_001354903.2:c.4457_4464dup	NP_001341832.1:p.Lys1489HisfsTer?
NM_001354904.2:c.4382_4389dup	NP_001341833.1:p.Lys1464HisfsTer?
NM_001354905.2:c.4280_4287dup	NP_001341834.1:p.Lys1430HisfsTer?
NM_001354906.2:c.3911_3918dup	NP_001341835.1:p.Lys1307HisfsTer?