Canonical Allele Identifier: CA2582341484

Gene: APC

Linked Data

• ClinVar Variation Id: 2583492
• ClinVar RCV Id: RCV003337163

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838680_112838681del , CM000667.2:g.112838680_112838681del	GRCh38
NC_000005.9:g.112174377_112174378del , CM000667.1:g.112174377_112174378del	GRCh37
NC_000005.8:g.112202276_112202277del	NCBI36
NG_008481.4:g.151160_151161del , LRG_130:g.151160_151161del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2751_2752del	ENSP00000484935.2:n.2751_2752del
ENST00000504915.3:c.3140_3141del	ENSP00000473355.2:p.Leu1047GlnfsTer5
ENST00000505350.2:c.*3092_*3093del	ENSP00000481752.1:n.*3092_*3093del
ENST00000507379.6:c.3032_3033del	ENSP00000423224.2:p.Leu1011GlnfsTer5
ENST00000509732.6:c.3086_3087del	ENSP00000426541.2:p.Leu1029GlnfsTer5
ENST00000512211.7:c.3086_3087del	ENSP00000423828.3:p.Leu1029GlnfsTer5
ENST00000257430.9:c.3086_3087del MANE Select	ENSP00000257430.4:p.Leu1029GlnfsTer5
ENST00000257430.8:c.3086_3087del	ENSP00000257430.4:p.Leu1029GlnfsTer5
ENST00000502371.2:c.1439_1440del
ENST00000507379.5:c.3032_3033del	ENSP00000423224.1:p.Leu1011GlnfsTer5
ENST00000508376.6:c.3086_3087del	ENSP00000427089.2:p.Leu1029GlnfsTer5
ENST00000508624.5:c.*2408_*2409del	ENSP00000424265.1:n.*2408_*2409del
ENST00000512211.6:c.3086_3087del	ENSP00000423828.2:p.Leu1029GlnfsTer5
ENST00000520401.1:c.230+9708_230+9709del
NM_000038.5:c.3086_3087del	NP_000029.2:p.Leu1029GlnfsTer5
NM_001127510.2:c.3086_3087del	NP_001120982.1:p.Leu1029GlnfsTer5
NM_001127511.2:c.3032_3033del	NP_001120983.2:p.Leu1011GlnfsTer5
NM_001354895.1:c.3086_3087del	NP_001341824.1:p.Leu1029GlnfsTer5
NM_001354896.1:c.3140_3141del	NP_001341825.1:p.Leu1047GlnfsTer5
NM_001354897.1:c.3116_3117del	NP_001341826.1:p.Leu1039GlnfsTer5
NM_001354898.1:c.3011_3012del	NP_001341827.1:p.Leu1004GlnfsTer5
NM_001354899.1:c.3002_3003del	NP_001341828.1:p.Leu1001GlnfsTer5
NM_001354900.1:c.2963_2964del	NP_001341829.1:p.Leu988GlnfsTer5
NM_001354901.1:c.2909_2910del	NP_001341830.1:p.Leu970GlnfsTer5
NM_001354902.1:c.2813_2814del	NP_001341831.1:p.Leu938GlnfsTer5
NM_001354903.1:c.2783_2784del	NP_001341832.1:p.Leu928GlnfsTer5
NM_001354904.1:c.2708_2709del	NP_001341833.1:p.Leu903GlnfsTer5
NM_001354905.1:c.2606_2607del	NP_001341834.1:p.Leu869GlnfsTer5
NM_001354906.1:c.2237_2238del	NP_001341835.1:p.Leu746GlnfsTer5
NM_000038.6:c.3086_3087del MANE Select	NP_000029.2:p.Leu1029GlnfsTer5
NM_001127510.3:c.3086_3087del	NP_001120982.1:p.Leu1029GlnfsTer5
NM_001127511.3:c.3032_3033del	NP_001120983.2:p.Leu1011GlnfsTer5
NM_001354895.2:c.3086_3087del	NP_001341824.1:p.Leu1029GlnfsTer5
NM_001354896.2:c.3140_3141del	NP_001341825.1:p.Leu1047GlnfsTer5
NM_001354897.2:c.3116_3117del	NP_001341826.1:p.Leu1039GlnfsTer5
NM_001354898.2:c.3011_3012del	NP_001341827.1:p.Leu1004GlnfsTer5
NM_001354899.2:c.3002_3003del	NP_001341828.1:p.Leu1001GlnfsTer5
NM_001354900.2:c.2963_2964del	NP_001341829.1:p.Leu988GlnfsTer5
NM_001354901.2:c.2909_2910del	NP_001341830.1:p.Leu970GlnfsTer5
NM_001354902.2:c.2813_2814del	NP_001341831.1:p.Leu938GlnfsTer5
NM_001354903.2:c.2783_2784del	NP_001341832.1:p.Leu928GlnfsTer5
NM_001354904.2:c.2708_2709del	NP_001341833.1:p.Leu903GlnfsTer5
NM_001354905.2:c.2606_2607del	NP_001341834.1:p.Leu869GlnfsTer5
NM_001354906.2:c.2237_2238del	NP_001341835.1:p.Leu746GlnfsTer5