Canonical Allele Identifier: CA2825002057
Community Standard Title: NM_016238.3(ANAPC7):c.493del (p.Cys165AlafsTer3)
Gene: ANAPC7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110388539del , CM000674.2:g.110388539del GRCh38
NC_000012.11:g.110826344del , CM000674.1:g.110826344del GRCh37
NC_000012.10:g.109310727del NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_016238.3:c.493del MANE Select NP_057322.3:p.Cys165AlafsTer3
ENST00000455511.9:c.493del MANE Select ENSP00000394394.4:p.Cys165AlafsTer3
NM_001137664.1:c.595del NP_001131136.1:p.Cys199AlafsTer3
NM_001137664.2:c.493del NP_001131136.2:p.Cys165AlafsTer3
NM_001385208.1:c.535del NP_001372137.1:p.Cys179AlafsTer3
NM_001385209.1:c.292del NP_001372138.1:p.Cys98AlafsTer3
NM_001385210.1:c.292del NP_001372139.1:p.Cys98AlafsTer3
NM_001385211.1:c.493del NP_001372140.1:p.Cys165AlafsTer3
NM_001385212.1:c.-41-647del NP_001372141.1:n.-41-647del
NM_016238.2:c.595del NP_057322.2:p.Cys199AlafsTer3
ENST00000450008.2:c.595del ENSP00000402314.2:p.Cys199AlafsTer3
ENST00000450008.3:c.493del ENSP00000402314.3:p.Cys165AlafsTer3
ENST00000455511.7:c.595del ENSP00000394394.3:p.Cys199AlafsTer3
ENST00000455511.8:c.493del ENSP00000394394.4:p.Cys165AlafsTer3
ENST00000464697.1:n.471-647del
ENST00000546720.5:n.450del
ENST00000552170.1:c.343del
ENST00000552170.2:c.*180del ENSP00000450405.2:n.*180del
XM_005253903.2:c.-41-647del XP_005253960.1:n.-41-647del
XM_005253903.3:c.-41-647del XP_005253960.1:n.-41-647del
XM_011538454.1:c.535del XP_011536756.1:p.Cys179AlafsTer3
XM_011538454.2:c.535del XP_011536756.1:p.Cys179AlafsTer3
XM_017019425.1:c.595del XP_016874914.1:p.Cys199AlafsTer3
XM_017019426.1:c.292del XP_016874915.1:p.Cys98AlafsTer3
XM_017019427.1:c.292del XP_016874916.1:p.Cys98AlafsTer3
XM_017019428.1:c.-41-647del XP_016874917.1:n.-41-647del
XR_001748747.1:n.596del
XR_001748748.1:n.596del
XR_001748749.1:n.1201del
XR_243015.2:n.596del