Canonical Allele Identifier: CA2499217472

Gene: APC

Linked Data

• ClinVar Variation Id: 1049327
• ClinVar RCV Id: RCV001355298
• dbSNP Id: rs2149891392

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839005del , CM000667.2:g.112839005del	GRCh38
NC_000005.9:g.112174702del , CM000667.1:g.112174702del	GRCh37
NC_000005.8:g.112202601del	NCBI36
NG_008481.4:g.151485del , LRG_130:g.151485del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3076del	ENSP00000484935.2:n.3076del
ENST00000504915.3:c.3465del	ENSP00000473355.2:p.Asp1155GlufsTer28
ENST00000505350.2:c.*3417del	ENSP00000481752.1:n.*3417del
ENST00000507379.6:c.3357del	ENSP00000423224.2:p.Asp1119GlufsTer28
ENST00000509732.6:c.3411del	ENSP00000426541.2:p.Asp1137GlufsTer28
ENST00000512211.7:c.3411del	ENSP00000423828.3:p.Asp1137GlufsTer28
ENST00000257430.9:c.3411del MANE Select	ENSP00000257430.4:p.Asp1137GlufsTer28
ENST00000257430.8:c.3411del	ENSP00000257430.4:p.Asp1137GlufsTer28
ENST00000502371.2:c.1764del
ENST00000507379.5:c.3357del	ENSP00000423224.1:p.Asp1119GlufsTer?
ENST00000508376.6:c.3411del	ENSP00000427089.2:p.Asp1137GlufsTer28
ENST00000508624.5:c.*2733del	ENSP00000424265.1:n.*2733del
ENST00000512211.6:c.3411del	ENSP00000423828.2:p.Asp1137GlufsTer28
ENST00000520401.1:c.230+10033del
NM_000038.5:c.3411del	NP_000029.2:p.Asp1137GlufsTer28
NM_001127510.2:c.3411del	NP_001120982.1:p.Asp1137GlufsTer28
NM_001127511.2:c.3357del	NP_001120983.2:p.Asp1119GlufsTer28
NM_001354895.1:c.3411del	NP_001341824.1:p.Asp1137GlufsTer28
NM_001354896.1:c.3465del	NP_001341825.1:p.Asp1155GlufsTer28
NM_001354897.1:c.3441del	NP_001341826.1:p.Asp1147GlufsTer28
NM_001354898.1:c.3336del	NP_001341827.1:p.Asp1112GlufsTer28
NM_001354899.1:c.3327del	NP_001341828.1:p.Asp1109GlufsTer28
NM_001354900.1:c.3288del	NP_001341829.1:p.Asp1096GlufsTer28
NM_001354901.1:c.3234del	NP_001341830.1:p.Asp1078GlufsTer28
NM_001354902.1:c.3138del	NP_001341831.1:p.Asp1046GlufsTer28
NM_001354903.1:c.3108del	NP_001341832.1:p.Asp1036GlufsTer28
NM_001354904.1:c.3033del	NP_001341833.1:p.Asp1011GlufsTer28
NM_001354905.1:c.2931del	NP_001341834.1:p.Asp977GlufsTer28
NM_001354906.1:c.2562del	NP_001341835.1:p.Asp854GlufsTer28
NM_000038.6:c.3411del MANE Select	NP_000029.2:p.Asp1137GlufsTer28
NM_001127510.3:c.3411del	NP_001120982.1:p.Asp1137GlufsTer28
NM_001127511.3:c.3357del	NP_001120983.2:p.Asp1119GlufsTer28
NM_001354895.2:c.3411del	NP_001341824.1:p.Asp1137GlufsTer28
NM_001354896.2:c.3465del	NP_001341825.1:p.Asp1155GlufsTer28
NM_001354897.2:c.3441del	NP_001341826.1:p.Asp1147GlufsTer28
NM_001354898.2:c.3336del	NP_001341827.1:p.Asp1112GlufsTer28
NM_001354899.2:c.3327del	NP_001341828.1:p.Asp1109GlufsTer28
NM_001354900.2:c.3288del	NP_001341829.1:p.Asp1096GlufsTer28
NM_001354901.2:c.3234del	NP_001341830.1:p.Asp1078GlufsTer28
NM_001354902.2:c.3138del	NP_001341831.1:p.Asp1046GlufsTer28
NM_001354903.2:c.3108del	NP_001341832.1:p.Asp1036GlufsTer28
NM_001354904.2:c.3033del	NP_001341833.1:p.Asp1011GlufsTer28
NM_001354905.2:c.2931del	NP_001341834.1:p.Asp977GlufsTer28
NM_001354906.2:c.2562del	NP_001341835.1:p.Asp854GlufsTer28