Canonical Allele Identifier: CA1573442695

Gene: APC

Linked Data

• ClinVar Variation Id: 1020534
• ClinVar RCV Id: RCV003538690
• dbSNP Id: rs1750604836

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707752dup , CM000667.2:g.112707752dup	GRCh38
NC_000005.9:g.112043449dup , CM000667.1:g.112043449dup	GRCh37
NC_000005.8:g.112071348dup	NCBI36
NG_008481.4:g.20232dup , LRG_130:g.20232dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.35dup	ENSP00000481752.1:p.Leu13PhefsTer?
ENST00000507379.6:c.35dup	ENSP00000423224.2:p.Leu13PhefsTer?
ENST00000509732.6:c.-19+103dup	ENSP00000426541.2:n.-19+103dup
ENST00000505350.1:c.35dup	ENSP00000481752.1:p.Leu13PhefsTer?
ENST00000507379.5:c.35dup	ENSP00000423224.1:p.Leu13PhefsTer?
ENST00000509732.5:c.-19+103dup	ENSP00000426541.1:n.-19+103dup
NM_001127511.2:c.35dup	NP_001120983.2:p.Leu13PhefsTer?
NM_001354895.1:c.-149dup	NP_001341824.1:n.-149dup
NM_001354897.1:c.35dup	NP_001341826.1:p.Leu13PhefsTer?
NM_001354902.1:c.35dup	NP_001341831.1:p.Leu13PhefsTer?
NM_001127511.3:c.35dup	NP_001120983.2:p.Leu13PhefsTer?
NM_001354895.2:c.-149dup	NP_001341824.1:n.-149dup
NM_001354897.2:c.35dup	NP_001341826.1:p.Leu13PhefsTer?
NM_001354902.2:c.35dup	NP_001341831.1:p.Leu13PhefsTer?