Canonical Allele Identifier: CA1573442785

Gene: APC

Linked Data

• ClinVar Variation Id: 2750901
• ClinVar RCV Id: RCV003536704
• dbSNP Id: rs1750615636

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707856_112707858del , CM000667.2:g.112707856_112707858del	GRCh38
NC_000005.9:g.112043553_112043555del , CM000667.1:g.112043553_112043555del	GRCh37
NC_000005.8:g.112071452_112071454del	NCBI36
NG_008481.4:g.20336_20338del , LRG_130:g.20336_20338del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.139_141del	ENSP00000481752.1:p.Ser47del
ENST00000507379.6:c.139_141del	ENSP00000423224.2:p.Ser47del
ENST00000509732.6:c.-19+207_-19+209del	ENSP00000426541.2:n.-19+207_-19+209del
ENST00000505350.1:c.139_141del	ENSP00000481752.1:p.Ser47del
ENST00000507379.5:c.139_141del	ENSP00000423224.1:p.Ser47del
ENST00000509732.5:c.-19+207_-19+209del	ENSP00000426541.1:n.-19+207_-19+209del
NM_001127511.2:c.139_141del	NP_001120983.2:p.Ser47del
NM_001354895.1:c.-45_-43del	NP_001341824.1:n.-45_-43del
NM_001354897.1:c.139_141del	NP_001341826.1:p.Ser47del
NM_001354902.1:c.139_141del	NP_001341831.1:p.Ser47del
NM_001127511.3:c.139_141del	NP_001120983.2:p.Ser47del
NM_001354895.2:c.-45_-43del	NP_001341824.1:n.-45_-43del
NM_001354897.2:c.139_141del	NP_001341826.1:p.Ser47del
NM_001354902.2:c.139_141del	NP_001341831.1:p.Ser47del