Canonical Allele Identifier: CA561895688

Gene: APC

Linked Data

• dbSNP Id: rs1469326988
• gnomAD v2: 5-112073192-CTG-C
• gnomAD v3: 5-112737495-CTG-C
• gnomAD v4: 5-112737495-CTG-C
• MyVariant Identifiers: chr5:g.112073193_112073194del (hg19) ; chr5:g.112737496_112737497del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112737498_112737499del , CM000667.2:g.112737498_112737499del	GRCh38
NC_000005.9:g.112073195_112073196del , CM000667.1:g.112073195_112073196del	GRCh37
NC_000005.8:g.112101094_112101095del	NCBI36
NG_008481.4:g.49978_49979del , LRG_130:g.49978_49979del

Transcript Alleles

HGVS	Amino-acid change
ENST00000505350.2:c.166-17375_166-17374del	ENSP00000481752.1:n.166-17375_166-17374de...
ENST00000507379.6:c.166-28828_166-28827del	ENSP00000423224.2:n.166-28828_166-28827de...
ENST00000509732.6:c.-18-17375_-18-17374del	ENSP00000426541.2:n.-18-17375_-18-17374de...
ENST00000505350.1:c.166-17375_166-17374del	ENSP00000481752.1:n.166-17375_166-17374de...
ENST00000507379.5:c.166-28828_166-28827del	ENSP00000423224.1:n.166-28828_166-28827de...
ENST00000509732.5:c.-18-17375_-18-17374del	ENSP00000426541.1:n.-18-17375_-18-17374de...
NM_001127511.2:c.166-28828_166-28827del	NP_001120983.2:n.166-28828_166-28827del
NM_001354895.1:c.-18-17375_-18-17374del	NP_001341824.1:n.-18-17375_-18-17374del
NM_001354897.1:c.166-28828_166-28827del	NP_001341826.1:n.166-28828_166-28827del
NM_001354902.1:c.166-28828_166-28827del	NP_001341831.1:n.166-28828_166-28827del
NM_001127511.3:c.166-28828_166-28827del	NP_001120983.2:n.166-28828_166-28827del
NM_001354895.2:c.-18-17375_-18-17374del	NP_001341824.1:n.-18-17375_-18-17374del
NM_001354897.2:c.166-28828_166-28827del	NP_001341826.1:n.166-28828_166-28827del
NM_001354902.2:c.166-28828_166-28827del	NP_001341831.1:n.166-28828_166-28827del