Canonical Allele Identifier: CA1080212539

Gene: APC

Linked Data

• dbSNP Id: rs1752470719
• gnomAD v3: 5-112737522-G-GA
• gnomAD v4: 5-112737522-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112737523dup , CM000667.2:g.112737523dup	GRCh38
NC_000005.9:g.112073220dup , CM000667.1:g.112073220dup	GRCh37
NC_000005.8:g.112101119dup	NCBI36
NG_008481.4:g.50003dup , LRG_130:g.50003dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000505350.2:c.166-17350dup	ENSP00000481752.1:n.166-17350dup
ENST00000507379.6:c.166-28803dup	ENSP00000423224.2:n.166-28803dup
ENST00000509732.6:c.-18-17350dup	ENSP00000426541.2:n.-18-17350dup
ENST00000505350.1:c.166-17350dup	ENSP00000481752.1:n.166-17350dup
ENST00000507379.5:c.166-28803dup	ENSP00000423224.1:n.166-28803dup
ENST00000509732.5:c.-18-17350dup	ENSP00000426541.1:n.-18-17350dup
NM_001127511.2:c.166-28803dup	NP_001120983.2:n.166-28803dup
NM_001354895.1:c.-18-17350dup	NP_001341824.1:n.-18-17350dup
NM_001354897.1:c.166-28803dup	NP_001341826.1:n.166-28803dup
NM_001354902.1:c.166-28803dup	NP_001341831.1:n.166-28803dup
NM_001127511.3:c.166-28803dup	NP_001120983.2:n.166-28803dup
NM_001354895.2:c.-18-17350dup	NP_001341824.1:n.-18-17350dup
NM_001354897.2:c.166-28803dup	NP_001341826.1:n.166-28803dup
NM_001354902.2:c.166-28803dup	NP_001341831.1:n.166-28803dup