Canonical Allele Identifier: CA2582341449

Gene: APC

Linked Data

• ClinVar Variation Id: 2584274
• ClinVar RCV Id: RCV003335722 ; RCV003466066

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838501_112838505dup , CM000667.2:g.112838501_112838505dup	GRCh38
NC_000005.9:g.112174198_112174202dup , CM000667.1:g.112174198_112174202dup	GRCh37
NC_000005.8:g.112202097_112202101dup	NCBI36
NG_008481.4:g.150981_150985dup , LRG_130:g.150981_150985dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.2572_2576dup	ENSP00000484935.2:n.2572_2576dup
ENST00000504915.3:c.2961_2965dup	ENSP00000473355.2:p.Asp989ValfsTer11
ENST00000505350.2:c.*2913_*2917dup	ENSP00000481752.1:n.*2913_*2917dup
ENST00000507379.6:c.2853_2857dup	ENSP00000423224.2:p.Asp953ValfsTer11
ENST00000509732.6:c.2907_2911dup	ENSP00000426541.2:p.Asp971ValfsTer11
ENST00000512211.7:c.2907_2911dup	ENSP00000423828.3:p.Asp971ValfsTer11
ENST00000257430.9:c.2907_2911dup MANE Select	ENSP00000257430.4:p.Asp971ValfsTer11
ENST00000257430.8:c.2907_2911dup	ENSP00000257430.4:p.Asp971ValfsTer11
ENST00000502371.2:c.1260_1264dup
ENST00000507379.5:c.2853_2857dup	ENSP00000423224.1:p.Asp953ValfsTer11
ENST00000508376.6:c.2907_2911dup	ENSP00000427089.2:p.Asp971ValfsTer11
ENST00000508624.5:c.*2229_*2233dup	ENSP00000424265.1:n.*2229_*2233dup
ENST00000512211.6:c.2907_2911dup	ENSP00000423828.2:p.Asp971ValfsTer11
ENST00000520401.1:c.230+9529_230+9533dup
NM_000038.5:c.2907_2911dup	NP_000029.2:p.Asp971ValfsTer11
NM_001127510.2:c.2907_2911dup	NP_001120982.1:p.Asp971ValfsTer11
NM_001127511.2:c.2853_2857dup	NP_001120983.2:p.Asp953ValfsTer11
NM_001354895.1:c.2907_2911dup	NP_001341824.1:p.Asp971ValfsTer11
NM_001354896.1:c.2961_2965dup	NP_001341825.1:p.Asp989ValfsTer11
NM_001354897.1:c.2937_2941dup	NP_001341826.1:p.Asp981ValfsTer11
NM_001354898.1:c.2832_2836dup	NP_001341827.1:p.Asp946ValfsTer11
NM_001354899.1:c.2823_2827dup	NP_001341828.1:p.Asp943ValfsTer11
NM_001354900.1:c.2784_2788dup	NP_001341829.1:p.Asp930ValfsTer11
NM_001354901.1:c.2730_2734dup	NP_001341830.1:p.Asp912ValfsTer11
NM_001354902.1:c.2634_2638dup	NP_001341831.1:p.Asp880ValfsTer11
NM_001354903.1:c.2604_2608dup	NP_001341832.1:p.Asp870ValfsTer11
NM_001354904.1:c.2529_2533dup	NP_001341833.1:p.Asp845ValfsTer11
NM_001354905.1:c.2427_2431dup	NP_001341834.1:p.Asp811ValfsTer11
NM_001354906.1:c.2058_2062dup	NP_001341835.1:p.Asp688ValfsTer11
NM_000038.6:c.2907_2911dup MANE Select	NP_000029.2:p.Asp971ValfsTer11
NM_001127510.3:c.2907_2911dup	NP_001120982.1:p.Asp971ValfsTer11
NM_001127511.3:c.2853_2857dup	NP_001120983.2:p.Asp953ValfsTer11
NM_001354895.2:c.2907_2911dup	NP_001341824.1:p.Asp971ValfsTer11
NM_001354896.2:c.2961_2965dup	NP_001341825.1:p.Asp989ValfsTer11
NM_001354897.2:c.2937_2941dup	NP_001341826.1:p.Asp981ValfsTer11
NM_001354898.2:c.2832_2836dup	NP_001341827.1:p.Asp946ValfsTer11
NM_001354899.2:c.2823_2827dup	NP_001341828.1:p.Asp943ValfsTer11
NM_001354900.2:c.2784_2788dup	NP_001341829.1:p.Asp930ValfsTer11
NM_001354901.2:c.2730_2734dup	NP_001341830.1:p.Asp912ValfsTer11
NM_001354902.2:c.2634_2638dup	NP_001341831.1:p.Asp880ValfsTer11
NM_001354903.2:c.2604_2608dup	NP_001341832.1:p.Asp870ValfsTer11
NM_001354904.2:c.2529_2533dup	NP_001341833.1:p.Asp845ValfsTer11
NM_001354905.2:c.2427_2431dup	NP_001341834.1:p.Asp811ValfsTer11
NM_001354906.2:c.2058_2062dup	NP_001341835.1:p.Asp688ValfsTer11