Canonical Allele Identifier: CA561895696

Gene: APC

Linked Data

• ClinVar Variation Id: 3034520
• ClinVar RCV Id: RCV003906897
• dbSNP Id: rs1303789669
• gnomAD v2: 5-112073294-CTT-C
• gnomAD v3: 5-112737597-CTT-C
• gnomAD v4: 5-112737597-CTT-C
• MyVariant Identifiers: chr5:g.112073295_112073296del (hg19) ; chr5:g.112737598_112737599del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112737599_112737600del , CM000667.2:g.112737599_112737600del	GRCh38
NC_000005.9:g.112073296_112073297del , CM000667.1:g.112073296_112073297del	GRCh37
NC_000005.8:g.112101195_112101196del	NCBI36
NG_008481.4:g.50079_50080del , LRG_130:g.50079_50080del

Transcript Alleles

HGVS	Amino-acid change
ENST00000505350.2:c.166-17274_166-17273del	ENSP00000481752.1:n.166-17274_166-17273del
ENST00000507379.6:c.166-28727_166-28726del	ENSP00000423224.2:n.166-28727_166-28726del
ENST00000509732.6:c.-18-17274_-18-17273del	ENSP00000426541.2:n.-18-17274_-18-17273del
ENST00000505350.1:c.166-17274_166-17273del	ENSP00000481752.1:n.166-17274_166-17273del
ENST00000507379.5:c.166-28727_166-28726del	ENSP00000423224.1:n.166-28727_166-28726del
ENST00000509732.5:c.-18-17274_-18-17273del	ENSP00000426541.1:n.-18-17274_-18-17273del
NM_001127511.2:c.166-28727_166-28726del	NP_001120983.2:n.166-28727_166-28726del
NM_001354895.1:c.-18-17274_-18-17273del	NP_001341824.1:n.-18-17274_-18-17273del
NM_001354897.1:c.166-28727_166-28726del	NP_001341826.1:n.166-28727_166-28726del
NM_001354902.1:c.166-28727_166-28726del	NP_001341831.1:n.166-28727_166-28726del
NM_001127511.3:c.166-28727_166-28726del	NP_001120983.2:n.166-28727_166-28726del
NM_001354895.2:c.-18-17274_-18-17273del	NP_001341824.1:n.-18-17274_-18-17273del
NM_001354897.2:c.166-28727_166-28726del	NP_001341826.1:n.166-28727_166-28726del
NM_001354902.2:c.166-28727_166-28726del	NP_001341831.1:n.166-28727_166-28726del