Canonical Allele Identifier: CA561895683

Gene: APC

Linked Data

• dbSNP Id: rs1554063884
• gnomAD v2: 5-112073112-C-CT
• gnomAD v3: 5-112737415-C-CT
• gnomAD v4: 5-112737415-C-CT
• MyVariant Identifiers: chr5:g.112073112_112073113insT (hg19) ; chr5:g.112737415_112737416insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112737416dup , CM000667.2:g.112737416dup	GRCh38
NC_000005.9:g.112073113dup , CM000667.1:g.112073113dup	GRCh37
NC_000005.8:g.112101012dup	NCBI36
NG_008481.4:g.49896dup , LRG_130:g.49896dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.166-17457dup	ENSP00000481752.1:n.166-17457dup
ENST00000507379.6:c.166-28910dup	ENSP00000423224.2:n.166-28910dup
ENST00000509732.6:c.-18-17457dup	ENSP00000426541.2:n.-18-17457dup
ENST00000505350.1:c.166-17457dup	ENSP00000481752.1:n.166-17457dup
ENST00000507379.5:c.166-28910dup	ENSP00000423224.1:n.166-28910dup
ENST00000509732.5:c.-18-17457dup	ENSP00000426541.1:n.-18-17457dup
NM_001127511.2:c.166-28910dup	NP_001120983.2:n.166-28910dup
NM_001354895.1:c.-18-17457dup	NP_001341824.1:n.-18-17457dup
NM_001354897.1:c.166-28910dup	NP_001341826.1:n.166-28910dup
NM_001354902.1:c.166-28910dup	NP_001341831.1:n.166-28910dup
NM_001127511.3:c.166-28910dup	NP_001120983.2:n.166-28910dup
NM_001354895.2:c.-18-17457dup	NP_001341824.1:n.-18-17457dup
NM_001354897.2:c.166-28910dup	NP_001341826.1:n.166-28910dup
NM_001354902.2:c.166-28910dup	NP_001341831.1:n.166-28910dup