Canonical Allele Identifier: CA445747843

Gene: APC

Linked Data

• ClinVar Variation Id: 1168689
• ClinVar RCV Id: RCV001562980 ; RCV002476823 ; RCV003771568
• dbSNP Id: rs1561393341
• gnomAD v2: 5-112043281-T-TG
• gnomAD v3: 5-112707584-T-TG
• gnomAD v4: 5-112707584-T-TG
• MyVariant Identifiers: chr5:g.112043281_112043282insG (hg19) ; chr5:g.112707584_112707585insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707584_112707585insG , CM000667.2:g.112707584_112707585insG	GRCh38
NC_000005.9:g.112043281_112043282insG , CM000667.1:g.112043281_112043282insG	GRCh37
NC_000005.8:g.112071180_112071181insG	NCBI36
NG_008481.4:g.20064_20065insG , LRG_130:g.20064_20065insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.-134_-133insG	ENSP00000481752.1:n.-134_-133insG
ENST00000507379.6:c.-134_-133insG	ENSP00000423224.2:n.-134_-133insG
ENST00000509732.6:c.-84_-83insG	ENSP00000426541.2:n.-84_-83insG
ENST00000505350.1:c.-134_-133insG	ENSP00000481752.1:n.-134_-133insG
ENST00000507379.5:c.-134_-133insG	ENSP00000423224.1:n.-134_-133insG
ENST00000509732.5:c.-84_-83insG	ENSP00000426541.1:n.-84_-83insG
NM_001127511.2:c.-134_-133insG	NP_001120983.2:n.-134_-133insG
NM_001354895.1:c.-317_-316insG	NP_001341824.1:n.-317_-316insG
NM_001354897.1:c.-134_-133insG	NP_001341826.1:n.-134_-133insG
NM_001354902.1:c.-134_-133insG	NP_001341831.1:n.-134_-133insG
NM_001127511.3:c.-134_-133insG	NP_001120983.2:n.-134_-133insG
NM_001354895.2:c.-317_-316insG	NP_001341824.1:n.-317_-316insG
NM_001354897.2:c.-134_-133insG	NP_001341826.1:n.-134_-133insG
NM_001354902.2:c.-134_-133insG	NP_001341831.1:n.-134_-133insG