Canonical Allele Identifier: CA2499217375

Gene: APC

Linked Data

• ClinVar Variation Id: 1049701
• ClinVar RCV Id: RCV001356150
• dbSNP Id: rs2149682229

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112737857_112738165del , CM000667.2:g.112737857_112738165del	GRCh38
NC_000005.9:g.112073554_112073862del , CM000667.1:g.112073554_112073862del	GRCh37
NC_000005.8:g.112101453_112101761del	NCBI36
NG_008481.4:g.50337_50645del , LRG_130:g.50337_50645del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.166-17016_166-16708del	ENSP00000481752.1:n.166-17016_166-16708del
ENST00000507379.6:c.166-28469_166-28161del	ENSP00000423224.2:n.166-28469_166-28161del
ENST00000509732.6:c.-18-17016_-18-16708del	ENSP00000426541.2:n.-18-17016_-18-16708del
ENST00000505350.1:c.166-17016_166-16708del	ENSP00000481752.1:n.166-17016_166-16708del
ENST00000507379.5:c.166-28469_166-28161del	ENSP00000423224.1:n.166-28469_166-28161del
ENST00000509732.5:c.-18-17016_-18-16708del	ENSP00000426541.1:n.-18-17016_-18-16708del
NM_001127511.2:c.166-28469_166-28161del	NP_001120983.2:n.166-28469_166-28161del
NM_001354895.1:c.-18-17016_-18-16708del	NP_001341824.1:n.-18-17016_-18-16708del
NM_001354897.1:c.166-28469_166-28161del	NP_001341826.1:n.166-28469_166-28161del
NM_001354902.1:c.166-28469_166-28161del	NP_001341831.1:n.166-28469_166-28161del
NM_001127511.3:c.166-28469_166-28161del	NP_001120983.2:n.166-28469_166-28161del
NM_001354895.2:c.-18-17016_-18-16708del	NP_001341824.1:n.-18-17016_-18-16708del
NM_001354897.2:c.166-28469_166-28161del	NP_001341826.1:n.166-28469_166-28161del
NM_001354902.2:c.166-28469_166-28161del	NP_001341831.1:n.166-28469_166-28161del