Canonical Allele Identifier: CA10578380

Gene: APC

Linked Data

• ClinVar Variation Id: 233514
• ClinVar RCV Id: RCV000220260 ; RCV003337259
• dbSNP Id: rs876660454
• MyVariant Identifiers: chr5:g.112175997_112175998del (hg19) ; chr5:g.112840300_112840301del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840300_112840301del , CM000667.2:g.112840300_112840301del	GRCh38
NC_000005.9:g.112175997_112175998del , CM000667.1:g.112175997_112175998del	GRCh37
NC_000005.8:g.112203896_112203897del	NCBI36
NG_008481.4:g.152780_152781del , LRG_130:g.152780_152781del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4760_4761del	ENSP00000473355.2:p.Asp1587GlyfsTer2
ENST00000505350.2:c.*4712_*4713del	ENSP00000481752.1:n.*4712_*4713del
ENST00000507379.6:c.4652_4653del	ENSP00000423224.2:p.Asp1551GlyfsTer2
ENST00000509732.6:c.4706_4707del	ENSP00000426541.2:p.Asp1569GlyfsTer2
ENST00000512211.7:c.4706_4707del	ENSP00000423828.3:p.Asp1569GlyfsTer2
ENST00000257430.9:c.4706_4707del MANE Select	ENSP00000257430.4:p.Asp1569GlyfsTer2
ENST00000257430.8:c.4706_4707del	ENSP00000257430.4:p.Asp1569GlyfsTer2
ENST00000508376.6:c.4706_4707del	ENSP00000427089.2:p.Asp1569GlyfsTer2
ENST00000508624.5:c.*4028_*4029del	ENSP00000424265.1:n.*4028_*4029del
ENST00000520401.1:c.230+11328_230+11329del
NM_000038.5:c.4706_4707del	NP_000029.2:p.Asp1569GlyfsTer2
NM_001127510.2:c.4706_4707del	NP_001120982.1:p.Asp1569GlyfsTer2
NM_001127511.2:c.4652_4653del	NP_001120983.2:p.Asp1551GlyfsTer2
NM_001354895.1:c.4706_4707del	NP_001341824.1:p.Asp1569GlyfsTer2
NM_001354896.1:c.4760_4761del	NP_001341825.1:p.Asp1587GlyfsTer2
NM_001354897.1:c.4736_4737del	NP_001341826.1:p.Asp1579GlyfsTer2
NM_001354898.1:c.4631_4632del	NP_001341827.1:p.Asp1544GlyfsTer2
NM_001354899.1:c.4622_4623del	NP_001341828.1:p.Asp1541GlyfsTer2
NM_001354900.1:c.4583_4584del	NP_001341829.1:p.Asp1528GlyfsTer2
NM_001354901.1:c.4529_4530del	NP_001341830.1:p.Asp1510GlyfsTer2
NM_001354902.1:c.4433_4434del	NP_001341831.1:p.Asp1478GlyfsTer2
NM_001354903.1:c.4403_4404del	NP_001341832.1:p.Asp1468GlyfsTer2
NM_001354904.1:c.4328_4329del	NP_001341833.1:p.Asp1443GlyfsTer2
NM_001354905.1:c.4226_4227del	NP_001341834.1:p.Asp1409GlyfsTer2
NM_001354906.1:c.3857_3858del	NP_001341835.1:p.Asp1286GlyfsTer2
NM_000038.6:c.4706_4707del MANE Select	NP_000029.2:p.Asp1569GlyfsTer2
NM_001127510.3:c.4706_4707del	NP_001120982.1:p.Asp1569GlyfsTer2
NM_001127511.3:c.4652_4653del	NP_001120983.2:p.Asp1551GlyfsTer2
NM_001354895.2:c.4706_4707del	NP_001341824.1:p.Asp1569GlyfsTer2
NM_001354896.2:c.4760_4761del	NP_001341825.1:p.Asp1587GlyfsTer2
NM_001354897.2:c.4736_4737del	NP_001341826.1:p.Asp1579GlyfsTer2
NM_001354898.2:c.4631_4632del	NP_001341827.1:p.Asp1544GlyfsTer2
NM_001354899.2:c.4622_4623del	NP_001341828.1:p.Asp1541GlyfsTer2
NM_001354900.2:c.4583_4584del	NP_001341829.1:p.Asp1528GlyfsTer2
NM_001354901.2:c.4529_4530del	NP_001341830.1:p.Asp1510GlyfsTer2
NM_001354902.2:c.4433_4434del	NP_001341831.1:p.Asp1478GlyfsTer2
NM_001354903.2:c.4403_4404del	NP_001341832.1:p.Asp1468GlyfsTer2
NM_001354904.2:c.4328_4329del	NP_001341833.1:p.Asp1443GlyfsTer2
NM_001354905.2:c.4226_4227del	NP_001341834.1:p.Asp1409GlyfsTer2
NM_001354906.2:c.3857_3858del	NP_001341835.1:p.Asp1286GlyfsTer2