Canonical Allele Identifier: CA658683425

Gene: APC

Linked Data

• ClinVar Variation Id: 489464
• ClinVar RCV Id: RCV000579858 ; RCV003537229 ; RCV004001228
• dbSNP Id: rs1554086446
• gnomAD v3: 5-112840695-CAAG-C
• gnomAD v4: 5-112840695-CAAG-C
• MyVariant Identifiers: chr5:g.112176393_112176395del (hg19) ; chr5:g.112840696_112840698del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840696_112840698del , CM000667.2:g.112840696_112840698del	GRCh38
NC_000005.9:g.112176393_112176395del , CM000667.1:g.112176393_112176395del	GRCh37
NC_000005.8:g.112204292_112204294del	NCBI36
NG_008481.4:g.153176_153178del , LRG_130:g.153176_153178del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5156_5158del	ENSP00000473355.2:p.Gln1719_Gly1720delinsArg
ENST00000505350.2:c.*5108_*5110del	ENSP00000481752.1:n.*5108_*5110del
ENST00000507379.6:c.5048_5050del	ENSP00000423224.2:p.Gln1683_Gly1684delinsArg
ENST00000509732.6:c.5102_5104del	ENSP00000426541.2:p.Gln1701_Gly1702delinsArg
ENST00000512211.7:c.5102_5104del	ENSP00000423828.3:p.Gln1701_Gly1702delinsArg
ENST00000257430.9:c.5102_5104del MANE Select	ENSP00000257430.4:p.Gln1701_Gly1702delinsArg
ENST00000257430.8:c.5102_5104del	ENSP00000257430.4:p.Gln1701_Gly1702delinsArg
ENST00000508376.6:c.5102_5104del	ENSP00000427089.2:p.Gln1701_Gly1702delinsArg
ENST00000508624.5:c.*4424_*4426del	ENSP00000424265.1:n.*4424_*4426del
ENST00000520401.1:c.230+11724_230+11726del
NM_000038.5:c.5102_5104del	NP_000029.2:p.Gln1701_Gly1702delinsArg
NM_001127510.2:c.5102_5104del	NP_001120982.1:p.Gln1701_Gly1702delinsArg
NM_001127511.2:c.5048_5050del	NP_001120983.2:p.Gln1683_Gly1684delinsArg
NM_001354895.1:c.5102_5104del	NP_001341824.1:p.Gln1701_Gly1702delinsArg
NM_001354896.1:c.5156_5158del	NP_001341825.1:p.Gln1719_Gly1720delinsArg
NM_001354897.1:c.5132_5134del	NP_001341826.1:p.Gln1711_Gly1712delinsArg
NM_001354898.1:c.5027_5029del	NP_001341827.1:p.Gln1676_Gly1677delinsArg
NM_001354899.1:c.5018_5020del	NP_001341828.1:p.Gln1673_Gly1674delinsArg
NM_001354900.1:c.4979_4981del	NP_001341829.1:p.Gln1660_Gly1661delinsArg
NM_001354901.1:c.4925_4927del	NP_001341830.1:p.Gln1642_Gly1643delinsArg
NM_001354902.1:c.4829_4831del	NP_001341831.1:p.Gln1610_Gly1611delinsArg
NM_001354903.1:c.4799_4801del	NP_001341832.1:p.Gln1600_Gly1601delinsArg
NM_001354904.1:c.4724_4726del	NP_001341833.1:p.Gln1575_Gly1576delinsArg
NM_001354905.1:c.4622_4624del	NP_001341834.1:p.Gln1541_Gly1542delinsArg
NM_001354906.1:c.4253_4255del	NP_001341835.1:p.Gln1418_Gly1419delinsArg
NM_000038.6:c.5102_5104del MANE Select	NP_000029.2:p.Gln1701_Gly1702delinsArg
NM_001127510.3:c.5102_5104del	NP_001120982.1:p.Gln1701_Gly1702delinsArg
NM_001127511.3:c.5048_5050del	NP_001120983.2:p.Gln1683_Gly1684delinsArg
NM_001354895.2:c.5102_5104del	NP_001341824.1:p.Gln1701_Gly1702delinsArg
NM_001354896.2:c.5156_5158del	NP_001341825.1:p.Gln1719_Gly1720delinsArg
NM_001354897.2:c.5132_5134del	NP_001341826.1:p.Gln1711_Gly1712delinsArg
NM_001354898.2:c.5027_5029del	NP_001341827.1:p.Gln1676_Gly1677delinsArg
NM_001354899.2:c.5018_5020del	NP_001341828.1:p.Gln1673_Gly1674delinsArg
NM_001354900.2:c.4979_4981del	NP_001341829.1:p.Gln1660_Gly1661delinsArg
NM_001354901.2:c.4925_4927del	NP_001341830.1:p.Gln1642_Gly1643delinsArg
NM_001354902.2:c.4829_4831del	NP_001341831.1:p.Gln1610_Gly1611delinsArg
NM_001354903.2:c.4799_4801del	NP_001341832.1:p.Gln1600_Gly1601delinsArg
NM_001354904.2:c.4724_4726del	NP_001341833.1:p.Gln1575_Gly1576delinsArg
NM_001354905.2:c.4622_4624del	NP_001341834.1:p.Gln1541_Gly1542delinsArg
NM_001354906.2:c.4253_4255del	NP_001341835.1:p.Gln1418_Gly1419delinsArg