Canonical Allele Identifier: CA2499217395

Gene: APC

Linked Data

• ClinVar Variation Id: 1050976
• ClinVar RCV Id: RCV003652205
• dbSNP Id: rs1580996199

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707585_112707586delinsGA , CM000667.2:g.112707585_112707586delinsGA	GRCh38
NC_000005.9:g.112043282_112043283delinsGA , CM000667.1:g.112043282_112043283delinsGA	GRCh37
NC_000005.8:g.112071181_112071182delinsGA	NCBI36
NG_008481.4:g.20065_20066delinsGA , LRG_130:g.20065_20066delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.-133_-132delinsGA	ENSP00000481752.1:n.-133_-132delinsGA
ENST00000507379.6:c.-133_-132delinsGA	ENSP00000423224.2:n.-133_-132delinsGA
ENST00000509732.6:c.-83_-82delinsGA	ENSP00000426541.2:n.-83_-82delinsGA
ENST00000505350.1:c.-133_-132delinsGA	ENSP00000481752.1:n.-133_-132delinsGA
ENST00000507379.5:c.-133_-132delinsGA	ENSP00000423224.1:n.-133_-132delinsGA
ENST00000509732.5:c.-83_-82delinsGA	ENSP00000426541.1:n.-83_-82delinsGA
NM_001127511.2:c.-133_-132delinsGA	NP_001120983.2:n.-133_-132delinsGA
NM_001354895.1:c.-316_-315delinsGA	NP_001341824.1:n.-316_-315delinsGA
NM_001354897.1:c.-133_-132delinsGA	NP_001341826.1:n.-133_-132delinsGA
NM_001354902.1:c.-133_-132delinsGA	NP_001341831.1:n.-133_-132delinsGA
NM_001127511.3:c.-133_-132delinsGA	NP_001120983.2:n.-133_-132delinsGA
NM_001354895.2:c.-316_-315delinsGA	NP_001341824.1:n.-316_-315delinsGA
NM_001354897.2:c.-133_-132delinsGA	NP_001341826.1:n.-133_-132delinsGA
NM_001354902.2:c.-133_-132delinsGA	NP_001341831.1:n.-133_-132delinsGA