Canonical Allele Identifier: CA1573442819

Gene: APC

Linked Data

• ClinVar Variation Id: 1046502
• ClinVar RCV Id: RCV003771015
• dbSNP Id: rs1750619239

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707892_112707900del , CM000667.2:g.112707892_112707900del	GRCh38
NC_000005.9:g.112043589_112043597del , CM000667.1:g.112043589_112043597del	GRCh37
NC_000005.8:g.112071488_112071496del	NCBI36
NG_008481.4:g.20372_20380del , LRG_130:g.20372_20380del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.165+10_165+18del	ENSP00000481752.1:n.165+10_165+18del
ENST00000507379.6:c.165+10_165+18del	ENSP00000423224.2:n.165+10_165+18del
ENST00000509732.6:c.-19+243_-19+251del	ENSP00000426541.2:n.-19+243_-19+251del
ENST00000505350.1:c.165+10_165+18del	ENSP00000481752.1:n.165+10_165+18del
ENST00000507379.5:c.165+10_165+18del	ENSP00000423224.1:n.165+10_165+18del
ENST00000509732.5:c.-19+243_-19+251del	ENSP00000426541.1:n.-19+243_-19+251del
NM_001127511.2:c.165+10_165+18del	NP_001120983.2:n.165+10_165+18del
NM_001354895.1:c.-19+10_-19+18del	NP_001341824.1:n.-19+10_-19+18del
NM_001354897.1:c.165+10_165+18del	NP_001341826.1:n.165+10_165+18del
NM_001354902.1:c.165+10_165+18del	NP_001341831.1:n.165+10_165+18del
NM_001127511.3:c.165+10_165+18del	NP_001120983.2:n.165+10_165+18del
NM_001354895.2:c.-19+10_-19+18del	NP_001341824.1:n.-19+10_-19+18del
NM_001354897.2:c.165+10_165+18del	NP_001341826.1:n.165+10_165+18del
NM_001354902.2:c.165+10_165+18del	NP_001341831.1:n.165+10_165+18del