Canonical Allele Identifier: CA645369376

Gene: APC

Linked Data

• ClinVar Variation Id: 429206
• ClinVar RCV Id: RCV000493785
• dbSNP Id: rs1131691256
• MyVariant Identifiers: chr5:g.112175301_112175304dup (hg19) ; chr5:g.112839604_112839607dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839604_112839607dup , CM000667.2:g.112839604_112839607dup	GRCh38
NC_000005.9:g.112175301_112175304dup , CM000667.1:g.112175301_112175304dup	GRCh37
NC_000005.8:g.112203200_112203203dup	NCBI36
NG_008481.4:g.152084_152087dup , LRG_130:g.152084_152087dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3675_3678dup	ENSP00000484935.2:n.3675_3678dup
ENST00000504915.3:c.4064_4067dup	ENSP00000473355.2:p.Gln1356HisfsTer5
ENST00000505350.2:c.*4016_*4019dup	ENSP00000481752.1:n.*4016_*4019dup
ENST00000507379.6:c.3956_3959dup	ENSP00000423224.2:p.Gln1320HisfsTer5
ENST00000509732.6:c.4010_4013dup	ENSP00000426541.2:p.Gln1338HisfsTer5
ENST00000512211.7:c.4010_4013dup	ENSP00000423828.3:p.Gln1338HisfsTer5
ENST00000257430.9:c.4010_4013dup MANE Select	ENSP00000257430.4:p.Gln1338HisfsTer5
ENST00000257430.8:c.4010_4013dup	ENSP00000257430.4:p.Gln1338HisfsTer5
ENST00000502371.2:c.2363_2366dup
ENST00000508376.6:c.4010_4013dup	ENSP00000427089.2:p.Gln1338HisfsTer5
ENST00000508624.5:c.*3332_*3335dup	ENSP00000424265.1:n.*3332_*3335dup
ENST00000520401.1:c.230+10632_230+10635dup
NM_000038.5:c.4010_4013dup	NP_000029.2:p.Gln1338HisfsTer5
NM_001127510.2:c.4010_4013dup	NP_001120982.1:p.Gln1338HisfsTer5
NM_001127511.2:c.3956_3959dup	NP_001120983.2:p.Gln1320HisfsTer5
NM_001354895.1:c.4010_4013dup	NP_001341824.1:p.Gln1338HisfsTer5
NM_001354896.1:c.4064_4067dup	NP_001341825.1:p.Gln1356HisfsTer5
NM_001354897.1:c.4040_4043dup	NP_001341826.1:p.Gln1348HisfsTer5
NM_001354898.1:c.3935_3938dup	NP_001341827.1:p.Gln1313HisfsTer5
NM_001354899.1:c.3926_3929dup	NP_001341828.1:p.Gln1310HisfsTer5
NM_001354900.1:c.3887_3890dup	NP_001341829.1:p.Gln1297HisfsTer5
NM_001354901.1:c.3833_3836dup	NP_001341830.1:p.Gln1279HisfsTer5
NM_001354902.1:c.3737_3740dup	NP_001341831.1:p.Gln1247HisfsTer5
NM_001354903.1:c.3707_3710dup	NP_001341832.1:p.Gln1237HisfsTer5
NM_001354904.1:c.3632_3635dup	NP_001341833.1:p.Gln1212HisfsTer5
NM_001354905.1:c.3530_3533dup	NP_001341834.1:p.Gln1178HisfsTer5
NM_001354906.1:c.3161_3164dup	NP_001341835.1:p.Gln1055HisfsTer5
NM_000038.6:c.4010_4013dup MANE Select	NP_000029.2:p.Gln1338HisfsTer5
NM_001127510.3:c.4010_4013dup	NP_001120982.1:p.Gln1338HisfsTer5
NM_001127511.3:c.3956_3959dup	NP_001120983.2:p.Gln1320HisfsTer5
NM_001354895.2:c.4010_4013dup	NP_001341824.1:p.Gln1338HisfsTer5
NM_001354896.2:c.4064_4067dup	NP_001341825.1:p.Gln1356HisfsTer5
NM_001354897.2:c.4040_4043dup	NP_001341826.1:p.Gln1348HisfsTer5
NM_001354898.2:c.3935_3938dup	NP_001341827.1:p.Gln1313HisfsTer5
NM_001354899.2:c.3926_3929dup	NP_001341828.1:p.Gln1310HisfsTer5
NM_001354900.2:c.3887_3890dup	NP_001341829.1:p.Gln1297HisfsTer5
NM_001354901.2:c.3833_3836dup	NP_001341830.1:p.Gln1279HisfsTer5
NM_001354902.2:c.3737_3740dup	NP_001341831.1:p.Gln1247HisfsTer5
NM_001354903.2:c.3707_3710dup	NP_001341832.1:p.Gln1237HisfsTer5
NM_001354904.2:c.3632_3635dup	NP_001341833.1:p.Gln1212HisfsTer5
NM_001354905.2:c.3530_3533dup	NP_001341834.1:p.Gln1178HisfsTer5
NM_001354906.2:c.3161_3164dup	NP_001341835.1:p.Gln1055HisfsTer5