Canonical Allele Identifier: CA124924951

Gene: APC

Linked Data

• ClinVar Variation Id: 1053062
• ClinVar RCV Id: RCV003154015
• dbSNP Id: rs926268635
• gnomAD v3: 5-112707586-G-GC
• gnomAD v4: 5-112707586-G-GC
• MyVariant Identifiers: chr5:g.112043283_112043284insC (hg19) ; chr5:g.112707586_112707587insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707586_112707587insC , CM000667.2:g.112707586_112707587insC	GRCh38
NC_000005.9:g.112043283_112043284insC , CM000667.1:g.112043283_112043284insC	GRCh37
NC_000005.8:g.112071182_112071183insC	NCBI36
NG_008481.4:g.20066_20067insC , LRG_130:g.20066_20067insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.-132_-131insC	ENSP00000481752.1:n.-132_-131insC
ENST00000507379.6:c.-132_-131insC	ENSP00000423224.2:n.-132_-131insC
ENST00000509732.6:c.-82_-81insC	ENSP00000426541.2:n.-82_-81insC
ENST00000505350.1:c.-132_-131insC	ENSP00000481752.1:n.-132_-131insC
ENST00000507379.5:c.-132_-131insC	ENSP00000423224.1:n.-132_-131insC
ENST00000509732.5:c.-82_-81insC	ENSP00000426541.1:n.-82_-81insC
NM_001127511.2:c.-132_-131insC	NP_001120983.2:n.-132_-131insC
NM_001354895.1:c.-315_-314insC	NP_001341824.1:n.-315_-314insC
NM_001354897.1:c.-132_-131insC	NP_001341826.1:n.-132_-131insC
NM_001354902.1:c.-132_-131insC	NP_001341831.1:n.-132_-131insC
NM_001127511.3:c.-132_-131insC	NP_001120983.2:n.-132_-131insC
NM_001354895.2:c.-315_-314insC	NP_001341824.1:n.-315_-314insC
NM_001354897.2:c.-132_-131insC	NP_001341826.1:n.-132_-131insC
NM_001354902.2:c.-132_-131insC	NP_001341831.1:n.-132_-131insC