Canonical Allele Identifier: CA2582341437

Gene: APC

Linked Data

• ClinVar Variation Id: 2584033
• ClinVar RCV Id: RCV003337608

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112837798_112837802del , CM000667.2:g.112837798_112837802del	GRCh38
NC_000005.9:g.112173495_112173499del , CM000667.1:g.112173495_112173499del	GRCh37
NC_000005.8:g.112201394_112201398del	NCBI36
NG_008481.4:g.150278_150282del , LRG_130:g.150278_150282del

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1869_1873del	ENSP00000484935.2:n.1869_1873del
ENST00000504915.3:c.2258_2262del	ENSP00000473355.2:p.Ala753ValfsTer19
ENST00000505350.2:c.*2210_*2214del	ENSP00000481752.1:n.*2210_*2214del
ENST00000507379.6:c.2150_2154del	ENSP00000423224.2:p.Ala717ValfsTer19
ENST00000509732.6:c.2204_2208del	ENSP00000426541.2:p.Ala735ValfsTer19
ENST00000512211.7:c.2204_2208del	ENSP00000423828.3:p.Ala735ValfsTer19
ENST00000257430.9:c.2204_2208del MANE Select	ENSP00000257430.4:p.Ala735ValfsTer19
ENST00000257430.8:c.2204_2208del	ENSP00000257430.4:p.Ala735ValfsTer19
ENST00000502371.2:c.557_561del
ENST00000507379.5:c.2150_2154del	ENSP00000423224.1:p.Ala717ValfsTer19
ENST00000508376.6:c.2204_2208del	ENSP00000427089.2:p.Ala735ValfsTer19
ENST00000508624.5:c.*1526_*1530del	ENSP00000424265.1:n.*1526_*1530del
ENST00000512211.6:c.2204_2208del	ENSP00000423828.2:p.Ala735ValfsTer19
ENST00000520401.1:c.230+8826_230+8830del
NM_000038.5:c.2204_2208del	NP_000029.2:p.Ala735ValfsTer19
NM_001127510.2:c.2204_2208del	NP_001120982.1:p.Ala735ValfsTer19
NM_001127511.2:c.2150_2154del	NP_001120983.2:p.Ala717ValfsTer19
NM_001354895.1:c.2204_2208del	NP_001341824.1:p.Ala735ValfsTer19
NM_001354896.1:c.2258_2262del	NP_001341825.1:p.Ala753ValfsTer19
NM_001354897.1:c.2234_2238del	NP_001341826.1:p.Ala745ValfsTer19
NM_001354898.1:c.2129_2133del	NP_001341827.1:p.Ala710ValfsTer19
NM_001354899.1:c.2120_2124del	NP_001341828.1:p.Ala707ValfsTer19
NM_001354900.1:c.2081_2085del	NP_001341829.1:p.Ala694ValfsTer19
NM_001354901.1:c.2027_2031del	NP_001341830.1:p.Ala676ValfsTer19
NM_001354902.1:c.1931_1935del	NP_001341831.1:p.Ala644ValfsTer19
NM_001354903.1:c.1901_1905del	NP_001341832.1:p.Ala634ValfsTer19
NM_001354904.1:c.1826_1830del	NP_001341833.1:p.Ala609ValfsTer19
NM_001354905.1:c.1724_1728del	NP_001341834.1:p.Ala575ValfsTer19
NM_001354906.1:c.1355_1359del	NP_001341835.1:p.Ala452ValfsTer19
NM_000038.6:c.2204_2208del MANE Select	NP_000029.2:p.Ala735ValfsTer19
NM_001127510.3:c.2204_2208del	NP_001120982.1:p.Ala735ValfsTer19
NM_001127511.3:c.2150_2154del	NP_001120983.2:p.Ala717ValfsTer19
NM_001354895.2:c.2204_2208del	NP_001341824.1:p.Ala735ValfsTer19
NM_001354896.2:c.2258_2262del	NP_001341825.1:p.Ala753ValfsTer19
NM_001354897.2:c.2234_2238del	NP_001341826.1:p.Ala745ValfsTer19
NM_001354898.2:c.2129_2133del	NP_001341827.1:p.Ala710ValfsTer19
NM_001354899.2:c.2120_2124del	NP_001341828.1:p.Ala707ValfsTer19
NM_001354900.2:c.2081_2085del	NP_001341829.1:p.Ala694ValfsTer19
NM_001354901.2:c.2027_2031del	NP_001341830.1:p.Ala676ValfsTer19
NM_001354902.2:c.1931_1935del	NP_001341831.1:p.Ala644ValfsTer19
NM_001354903.2:c.1901_1905del	NP_001341832.1:p.Ala634ValfsTer19
NM_001354904.2:c.1826_1830del	NP_001341833.1:p.Ala609ValfsTer19
NM_001354905.2:c.1724_1728del	NP_001341834.1:p.Ala575ValfsTer19
NM_001354906.2:c.1355_1359del	NP_001341835.1:p.Ala452ValfsTer19