Canonical Allele Identifier: CA1573442791

Gene: APC

Linked Data

• ClinVar Variation Id: 1012016
• ClinVar RCV Id: RCV002543536
• dbSNP Id: rs1750616412

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707863del , CM000667.2:g.112707863del	GRCh38
NC_000005.9:g.112043560del , CM000667.1:g.112043560del	GRCh37
NC_000005.8:g.112071459del	NCBI36
NG_008481.4:g.20343del , LRG_130:g.20343del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.146del	ENSP00000481752.1:p.His49ProfsTer23
ENST00000507379.6:c.146del	ENSP00000423224.2:p.His49ProfsTer?
ENST00000509732.6:c.-19+214del	ENSP00000426541.2:n.-19+214del
ENST00000505350.1:c.146del	ENSP00000481752.1:p.His49ProfsTer23
ENST00000507379.5:c.146del	ENSP00000423224.1:p.His49ProfsTer?
ENST00000509732.5:c.-19+214del	ENSP00000426541.1:n.-19+214del
NM_001127511.2:c.146del	NP_001120983.2:p.His49ProfsTer?
NM_001354895.1:c.-38del	NP_001341824.1:n.-38del
NM_001354897.1:c.146del	NP_001341826.1:p.His49ProfsTer?
NM_001354902.1:c.146del	NP_001341831.1:p.His49ProfsTer?
NM_001127511.3:c.146del	NP_001120983.2:p.His49ProfsTer?
NM_001354895.2:c.-38del	NP_001341824.1:n.-38del
NM_001354897.2:c.146del	NP_001341826.1:p.His49ProfsTer?
NM_001354902.2:c.146del	NP_001341831.1:p.His49ProfsTer?