Canonical Allele Identifier: CA645509160

Gene: APC

Linked Data

• ClinVar Variation Id: 438864
• ClinVar RCV Id: RCV000505855 ; RCV002524426 ; RCV003337303 ; RCV003743763
• dbSNP Id: rs1554080082
• MyVariant Identifiers: chr5:g.112154969del (hg19) ; chr5:g.112819272del (hg38)
• ERepo: CA645509160/MONDO:0021056/089

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112819272del , CM000667.2:g.112819272del	GRCh38
NC_000005.9:g.112154969del , CM000667.1:g.112154969del	GRCh37
NC_000005.8:g.112182868del	NCBI36
NG_008481.4:g.131752del , LRG_130:g.131752del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1240del	ENSP00000484935.2:p.Arg414AlafsTer?
ENST00000504915.3:c.1240del	ENSP00000473355.2:p.Arg414AlafsTer?
ENST00000505084.2:n.1296del
ENST00000505350.2:c.*1246del	ENSP00000481752.1:n.*1246del
ENST00000507379.6:c.1186del	ENSP00000423224.2:p.Arg396AlafsTer?
ENST00000509732.6:c.1240del	ENSP00000426541.2:p.Arg414AlafsTer?
ENST00000512211.7:c.1240del	ENSP00000423828.3:p.Arg414AlafsTer?
ENST00000257430.9:c.1240del MANE Select	ENSP00000257430.4:p.Arg414AlafsTer?
ENST00000257430.8:c.1240del	ENSP00000257430.4:p.Arg414AlafsTer?
ENST00000507379.5:c.1186del	ENSP00000423224.1:p.Arg396AlafsTer?
ENST00000508376.6:c.1240del	ENSP00000427089.2:p.Arg414AlafsTer?
ENST00000508624.5:c.*562del	ENSP00000424265.1:n.*562del
ENST00000512211.6:c.1240del	ENSP00000423828.2:p.Arg414AlafsTer?
NM_000038.5:c.1240del	NP_000029.2:p.Arg414AlafsTer?
NM_001127510.2:c.1240del	NP_001120982.1:p.Arg414AlafsTer?
NM_001127511.2:c.1186del	NP_001120983.2:p.Arg396AlafsTer?
NM_001354895.1:c.1240del	NP_001341824.1:p.Arg414AlafsTer?
NM_001354896.1:c.1240del	NP_001341825.1:p.Arg414AlafsTer?
NM_001354897.1:c.1270del	NP_001341826.1:p.Arg424AlafsTer?
NM_001354898.1:c.1165del	NP_001341827.1:p.Arg389AlafsTer?
NM_001354899.1:c.1156del	NP_001341828.1:p.Arg386AlafsTer?
NM_001354900.1:c.1063del	NP_001341829.1:p.Arg355AlafsTer?
NM_001354901.1:c.1063del	NP_001341830.1:p.Arg355AlafsTer?
NM_001354902.1:c.967del	NP_001341831.1:p.Arg323AlafsTer?
NM_001354903.1:c.937del	NP_001341832.1:p.Arg313AlafsTer?
NM_001354904.1:c.862del	NP_001341833.1:p.Arg288AlafsTer?
NM_001354905.1:c.760del	NP_001341834.1:p.Arg254AlafsTer?
NM_001354906.1:c.391del	NP_001341835.1:p.Arg131AlafsTer?
NM_000038.6:c.1240del MANE Select	NP_000029.2:p.Arg414AlafsTer?
NM_001127510.3:c.1240del	NP_001120982.1:p.Arg414AlafsTer?
NM_001127511.3:c.1186del	NP_001120983.2:p.Arg396AlafsTer?
NM_001354895.2:c.1240del	NP_001341824.1:p.Arg414AlafsTer?
NM_001354896.2:c.1240del	NP_001341825.1:p.Arg414AlafsTer?
NM_001354897.2:c.1270del	NP_001341826.1:p.Arg424AlafsTer?
NM_001354898.2:c.1165del	NP_001341827.1:p.Arg389AlafsTer?
NM_001354899.2:c.1156del	NP_001341828.1:p.Arg386AlafsTer?
NM_001354900.2:c.1063del	NP_001341829.1:p.Arg355AlafsTer?
NM_001354901.2:c.1063del	NP_001341830.1:p.Arg355AlafsTer?
NM_001354902.2:c.967del	NP_001341831.1:p.Arg323AlafsTer?
NM_001354903.2:c.937del	NP_001341832.1:p.Arg313AlafsTer?
NM_001354904.2:c.862del	NP_001341833.1:p.Arg288AlafsTer?
NM_001354905.2:c.760del	NP_001341834.1:p.Arg254AlafsTer?
NM_001354906.2:c.391del	NP_001341835.1:p.Arg131AlafsTer?