Canonical Allele Identifier: CA279794

Gene: APC

Linked Data

• ClinVar Variation Id: 217998
• ClinVar RCV Id: RCV000202237 ; RCV002517336 ; RCV003650459 ; RCV002288820
• dbSNP Id: rs863225368
• COSMIC: COSM6221211
• MyVariant Identifiers: chr5:g.112177227del (hg19) ; chr5:g.112841530del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841530del , CM000667.2:g.112841530del	GRCh38
NC_000005.9:g.112177227del , CM000667.1:g.112177227del	GRCh37
NC_000005.8:g.112205126del	NCBI36
NG_008481.4:g.154010del , LRG_130:g.154010del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5990del	ENSP00000473355.2:p.Asn1997ThrfsTer?
ENST00000505350.2:c.*5942del	ENSP00000481752.1:n.*5942del
ENST00000507379.6:c.5882del	ENSP00000423224.2:p.Asn1961ThrfsTer?
ENST00000509732.6:c.5936del	ENSP00000426541.2:p.Asn1979ThrfsTer?
ENST00000512211.7:c.5936del	ENSP00000423828.3:p.Asn1979ThrfsTer?
ENST00000257430.9:c.5936del MANE Select	ENSP00000257430.4:p.Asn1979ThrfsTer?
ENST00000257430.8:c.5936del	ENSP00000257430.4:p.Asn1979ThrfsTer?
ENST00000508376.6:c.5936del	ENSP00000427089.2:p.Asn1979ThrfsTer?
ENST00000508624.5:c.*5258del	ENSP00000424265.1:n.*5258del
ENST00000520401.1:c.230+12558del
NM_000038.5:c.5936del	NP_000029.2:p.Asn1979ThrfsTer?
NM_001127510.2:c.5936del	NP_001120982.1:p.Asn1979ThrfsTer?
NM_001127511.2:c.5882del	NP_001120983.2:p.Asn1961ThrfsTer?
NM_001354895.1:c.5936del	NP_001341824.1:p.Asn1979ThrfsTer?
NM_001354896.1:c.5990del	NP_001341825.1:p.Asn1997ThrfsTer?
NM_001354897.1:c.5966del	NP_001341826.1:p.Asn1989ThrfsTer?
NM_001354898.1:c.5861del	NP_001341827.1:p.Asn1954ThrfsTer?
NM_001354899.1:c.5852del	NP_001341828.1:p.Asn1951ThrfsTer?
NM_001354900.1:c.5813del	NP_001341829.1:p.Asn1938ThrfsTer?
NM_001354901.1:c.5759del	NP_001341830.1:p.Asn1920ThrfsTer?
NM_001354902.1:c.5663del	NP_001341831.1:p.Asn1888ThrfsTer?
NM_001354903.1:c.5633del	NP_001341832.1:p.Asn1878ThrfsTer?
NM_001354904.1:c.5558del	NP_001341833.1:p.Asn1853ThrfsTer?
NM_001354905.1:c.5456del	NP_001341834.1:p.Asn1819ThrfsTer?
NM_001354906.1:c.5087del	NP_001341835.1:p.Asn1696ThrfsTer?
NM_000038.6:c.5936del MANE Select	NP_000029.2:p.Asn1979ThrfsTer?
NM_001127510.3:c.5936del	NP_001120982.1:p.Asn1979ThrfsTer?
NM_001127511.3:c.5882del	NP_001120983.2:p.Asn1961ThrfsTer?
NM_001354895.2:c.5936del	NP_001341824.1:p.Asn1979ThrfsTer?
NM_001354896.2:c.5990del	NP_001341825.1:p.Asn1997ThrfsTer?
NM_001354897.2:c.5966del	NP_001341826.1:p.Asn1989ThrfsTer?
NM_001354898.2:c.5861del	NP_001341827.1:p.Asn1954ThrfsTer?
NM_001354899.2:c.5852del	NP_001341828.1:p.Asn1951ThrfsTer?
NM_001354900.2:c.5813del	NP_001341829.1:p.Asn1938ThrfsTer?
NM_001354901.2:c.5759del	NP_001341830.1:p.Asn1920ThrfsTer?
NM_001354902.2:c.5663del	NP_001341831.1:p.Asn1888ThrfsTer?
NM_001354903.2:c.5633del	NP_001341832.1:p.Asn1878ThrfsTer?
NM_001354904.2:c.5558del	NP_001341833.1:p.Asn1853ThrfsTer?
NM_001354905.2:c.5456del	NP_001341834.1:p.Asn1819ThrfsTer?
NM_001354906.2:c.5087del	NP_001341835.1:p.Asn1696ThrfsTer?