Canonical Allele Identifier: CA16618071

Gene: APC

Linked Data

• ClinVar Variation Id: 419993
• ClinVar RCV Id: RCV000484952 ; RCV000709988
• dbSNP Id: rs1064794225
• MyVariant Identifiers: chr5:g.112154939del (hg19) ; chr5:g.112819242del (hg38)
• PubMed: PMID:20685668

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112819242del , CM000667.2:g.112819242del	GRCh38
NC_000005.9:g.112154939del , CM000667.1:g.112154939del	GRCh37
NC_000005.8:g.112182838del	NCBI36
NG_008481.4:g.131722del , LRG_130:g.131722del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1210del	ENSP00000484935.2:p.Ile404SerfsTer?
ENST00000504915.3:c.1210del	ENSP00000473355.2:p.Ile404SerfsTer?
ENST00000505084.2:n.1266del
ENST00000505350.2:c.*1216del	ENSP00000481752.1:n.*1216del
ENST00000507379.6:c.1156del	ENSP00000423224.2:p.Ile386SerfsTer?
ENST00000509732.6:c.1210del	ENSP00000426541.2:p.Ile404SerfsTer?
ENST00000512211.7:c.1210del	ENSP00000423828.3:p.Ile404SerfsTer?
ENST00000257430.9:c.1210del MANE Select	ENSP00000257430.4:p.Ile404SerfsTer?
ENST00000257430.8:c.1210del	ENSP00000257430.4:p.Ile404SerfsTer?
ENST00000507379.5:c.1156del	ENSP00000423224.1:p.Ile386SerfsTer?
ENST00000508376.6:c.1210del	ENSP00000427089.2:p.Ile404SerfsTer?
ENST00000508624.5:c.*532del	ENSP00000424265.1:n.*532del
ENST00000512211.6:c.1210del	ENSP00000423828.2:p.Ile404SerfsTer?
NM_000038.5:c.1210del	NP_000029.2:p.Ile404SerfsTer?
NM_001127510.2:c.1210del	NP_001120982.1:p.Ile404SerfsTer?
NM_001127511.2:c.1156del	NP_001120983.2:p.Ile386SerfsTer?
NM_001354895.1:c.1210del	NP_001341824.1:p.Ile404SerfsTer?
NM_001354896.1:c.1210del	NP_001341825.1:p.Ile404SerfsTer?
NM_001354897.1:c.1240del	NP_001341826.1:p.Ile414SerfsTer?
NM_001354898.1:c.1135del	NP_001341827.1:p.Ile379SerfsTer?
NM_001354899.1:c.1126del	NP_001341828.1:p.Ile376SerfsTer?
NM_001354900.1:c.1033del	NP_001341829.1:p.Ile345SerfsTer?
NM_001354901.1:c.1033del	NP_001341830.1:p.Ile345SerfsTer?
NM_001354902.1:c.964-27del	NP_001341831.1:n.964-27del
NM_001354903.1:c.934-27del	NP_001341832.1:n.934-27del
NM_001354904.1:c.859-27del	NP_001341833.1:n.859-27del
NM_001354905.1:c.757-27del	NP_001341834.1:n.757-27del
NM_001354906.1:c.361del	NP_001341835.1:p.Ile121SerfsTer?
NM_000038.6:c.1210del MANE Select	NP_000029.2:p.Ile404SerfsTer?
NM_001127510.3:c.1210del	NP_001120982.1:p.Ile404SerfsTer?
NM_001127511.3:c.1156del	NP_001120983.2:p.Ile386SerfsTer?
NM_001354895.2:c.1210del	NP_001341824.1:p.Ile404SerfsTer?
NM_001354896.2:c.1210del	NP_001341825.1:p.Ile404SerfsTer?
NM_001354897.2:c.1240del	NP_001341826.1:p.Ile414SerfsTer?
NM_001354898.2:c.1135del	NP_001341827.1:p.Ile379SerfsTer?
NM_001354899.2:c.1126del	NP_001341828.1:p.Ile376SerfsTer?
NM_001354900.2:c.1033del	NP_001341829.1:p.Ile345SerfsTer?
NM_001354901.2:c.1033del	NP_001341830.1:p.Ile345SerfsTer?
NM_001354902.2:c.964-27del	NP_001341831.1:n.964-27del
NM_001354903.2:c.934-27del	NP_001341832.1:n.934-27del
NM_001354904.2:c.859-27del	NP_001341833.1:n.859-27del
NM_001354905.2:c.757-27del	NP_001341834.1:n.757-27del
NM_001354906.2:c.361del	NP_001341835.1:p.Ile121SerfsTer?