Canonical Allele Identifier: CA2499217403

Gene: APC

Linked Data

• ClinVar Variation Id: 1052820
• ClinVar RCV Id: RCV003652212
• dbSNP Id: rs2149630638

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707757_112707766del , CM000667.2:g.112707757_112707766del	GRCh38
NC_000005.9:g.112043454_112043463del , CM000667.1:g.112043454_112043463del	GRCh37
NC_000005.8:g.112071353_112071362del	NCBI36
NG_008481.4:g.20237_20246del , LRG_130:g.20237_20246del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.40_49del	ENSP00000481752.1:p.Pro14TyrfsTer?
ENST00000507379.6:c.40_49del	ENSP00000423224.2:p.Pro14TyrfsTer?
ENST00000509732.6:c.-19+108_-19+117del	ENSP00000426541.2:n.-19+108_-19+117del
ENST00000505350.1:c.40_49del	ENSP00000481752.1:p.Pro14TyrfsTer?
ENST00000507379.5:c.40_49del	ENSP00000423224.1:p.Pro14TyrfsTer?
ENST00000509732.5:c.-19+108_-19+117del	ENSP00000426541.1:n.-19+108_-19+117del
NM_001127511.2:c.40_49del	NP_001120983.2:p.Pro14TyrfsTer?
NM_001354895.1:c.-144_-135del	NP_001341824.1:n.-144_-135del
NM_001354897.1:c.40_49del	NP_001341826.1:p.Pro14TyrfsTer?
NM_001354902.1:c.40_49del	NP_001341831.1:p.Pro14TyrfsTer?
NM_001127511.3:c.40_49del	NP_001120983.2:p.Pro14TyrfsTer?
NM_001354895.2:c.-144_-135del	NP_001341824.1:n.-144_-135del
NM_001354897.2:c.40_49del	NP_001341826.1:p.Pro14TyrfsTer?
NM_001354902.2:c.40_49del	NP_001341831.1:p.Pro14TyrfsTer?