Canonical Allele Identifier: CA2499217388

Gene: APC

Linked Data

• ClinVar Variation Id: 1058376
• ClinVar RCV Id: RCV003771142
• dbSNP Id: rs2149629265

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707541dup , CM000667.2:g.112707541dup	GRCh38
NC_000005.9:g.112043238dup , CM000667.1:g.112043238dup	GRCh37
NC_000005.8:g.112071137dup	NCBI36
NG_008481.4:g.20021dup , LRG_130:g.20021dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.-177dup	ENSP00000481752.1:n.-177dup
ENST00000507379.6:c.-177dup	ENSP00000423224.2:n.-177dup
ENST00000509732.6:c.-127dup	ENSP00000426541.2:n.-127dup
ENST00000505350.1:c.-177dup	ENSP00000481752.1:n.-177dup
ENST00000507379.5:c.-177dup	ENSP00000423224.1:n.-177dup
ENST00000509732.5:c.-127dup	ENSP00000426541.1:n.-127dup
NM_001127511.2:c.-177dup	NP_001120983.2:n.-177dup
NM_001354895.1:c.-360dup	NP_001341824.1:n.-360dup
NM_001354897.1:c.-177dup	NP_001341826.1:n.-177dup
NM_001354902.1:c.-177dup	NP_001341831.1:n.-177dup
NM_001127511.3:c.-177dup	NP_001120983.2:n.-177dup
NM_001354895.2:c.-360dup	NP_001341824.1:n.-360dup
NM_001354897.2:c.-177dup	NP_001341826.1:n.-177dup
NM_001354902.2:c.-177dup	NP_001341831.1:n.-177dup