Canonical Allele Identifier: CA2499217407

Gene: APC

Linked Data

• ClinVar Variation Id: 1054334
• ClinVar RCV Id: RCV003538740
• dbSNP Id: rs2149631016

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707814_112707829del , CM000667.2:g.112707814_112707829del	GRCh38
NC_000005.9:g.112043511_112043526del , CM000667.1:g.112043511_112043526del	GRCh37
NC_000005.8:g.112071410_112071425del	NCBI36
NG_008481.4:g.20294_20309del , LRG_130:g.20294_20309del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.97_112del	ENSP00000481752.1:p.Cys33ArgfsTer?
ENST00000507379.6:c.97_112del	ENSP00000423224.2:p.Cys33ArgfsTer?
ENST00000509732.6:c.-19+165_-19+180del	ENSP00000426541.2:n.-19+165_-19+180del
ENST00000505350.1:c.97_112del	ENSP00000481752.1:p.Cys33ArgfsTer?
ENST00000507379.5:c.97_112del	ENSP00000423224.1:p.Cys33ArgfsTer?
ENST00000509732.5:c.-19+165_-19+180del	ENSP00000426541.1:n.-19+165_-19+180del
NM_001127511.2:c.97_112del	NP_001120983.2:p.Cys33ArgfsTer?
NM_001354895.1:c.-87_-72del	NP_001341824.1:n.-87_-72del
NM_001354897.1:c.97_112del	NP_001341826.1:p.Cys33ArgfsTer?
NM_001354902.1:c.97_112del	NP_001341831.1:p.Cys33ArgfsTer?
NM_001127511.3:c.97_112del	NP_001120983.2:p.Cys33ArgfsTer?
NM_001354895.2:c.-87_-72del	NP_001341824.1:n.-87_-72del
NM_001354897.2:c.97_112del	NP_001341826.1:p.Cys33ArgfsTer?
NM_001354902.2:c.97_112del	NP_001341831.1:p.Cys33ArgfsTer?