Canonical Allele Identifier: CA2499217393

Gene: APC

Linked Data

• ClinVar Variation Id: 1062593
• ClinVar RCV Id: RCV002242669
• dbSNP Id: rs2149629576

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707585_112707587delinsGTC , CM000667.2:g.112707585_112707587delinsGTC	GRCh38
NC_000005.9:g.112043282_112043284delinsGTC , CM000667.1:g.112043282_112043284delinsGTC	GRCh37
NC_000005.8:g.112071181_112071183delinsGTC	NCBI36
NG_008481.4:g.20065_20067delinsGTC , LRG_130:g.20065_20067delinsGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.-133_-131delinsGTC	ENSP00000481752.1:n.-133_-131delinsGTC
ENST00000507379.6:c.-133_-131delinsGTC	ENSP00000423224.2:n.-133_-131delinsGTC
ENST00000509732.6:c.-83_-81delinsGTC	ENSP00000426541.2:n.-83_-81delinsGTC
ENST00000505350.1:c.-133_-131delinsGTC	ENSP00000481752.1:n.-133_-131delinsGTC
ENST00000507379.5:c.-133_-131delinsGTC	ENSP00000423224.1:n.-133_-131delinsGTC
ENST00000509732.5:c.-83_-81delinsGTC	ENSP00000426541.1:n.-83_-81delinsGTC
NM_001127511.2:c.-133_-131delinsGTC	NP_001120983.2:n.-133_-131delinsGTC
NM_001354895.1:c.-316_-314delinsGTC	NP_001341824.1:n.-316_-314delinsGTC
NM_001354897.1:c.-133_-131delinsGTC	NP_001341826.1:n.-133_-131delinsGTC
NM_001354902.1:c.-133_-131delinsGTC	NP_001341831.1:n.-133_-131delinsGTC
NM_001127511.3:c.-133_-131delinsGTC	NP_001120983.2:n.-133_-131delinsGTC
NM_001354895.2:c.-316_-314delinsGTC	NP_001341824.1:n.-316_-314delinsGTC
NM_001354897.2:c.-133_-131delinsGTC	NP_001341826.1:n.-133_-131delinsGTC
NM_001354902.2:c.-133_-131delinsGTC	NP_001341831.1:n.-133_-131delinsGTC