Canonical Allele Identifier: CA339916
Gene: CENPJ HGNC NCBI

Linked Data

ClinVar Variation Id: 1819
dbSNP Id: rs199422203

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.24889374_24889377del , CM000675.2:g.24889374_24889377del GRCh38
NC_000013.10:g.25463512_25463515del , CM000675.1:g.25463512_25463515del GRCh37
NC_000013.9:g.24361512_24361515del NCBI36
NG_009165.2:g.38574_38577del

Transcript Alleles

HGVS Amino-acid change
ENST00000381884.9:c.3243_3246del MANE Select ENSP00000371308.4:p.Ser1081ArgfsTer8
ENST00000545981.6:c.3243_3246del ENSP00000441090.2:p.Ser1081ArgfsTer8
ENST00000381884.8:c.3243_3246del ENSP00000371308.4:p.Ser1081ArgfsTer8
ENST00000418179.1:c.487_490del
ENST00000545981.5:c.3243_3246del ENSP00000441090.2:p.Ser1081ArgfsTer8
ENST00000616936.4:c.3216+3269_3216+3272del ENSP00000477511.1:n.3216+3269_3216+3272de...
NM_018451.4:c.3243_3246del NP_060921.3:p.Ser1081ArgfsTer8
NR_047594.1:n.3438_3441del
NR_047595.1:n.3411+3269_3411+3272del
XM_011535149.1:c.3243_3246del XP_011533451.1:p.Ser1081ArgfsTer8
XR_941627.1:n.3438_3441del
XM_011535149.2:c.3243_3246del XP_011533451.1:p.Ser1081ArgfsTer8
XM_011535150.2:c.*1948_*1951del XP_011533452.1:n.*1948_*1951del
NM_018451.5:c.3243_3246del MANE Select NP_060921.3:p.Ser1081ArgfsTer8
NR_047594.2:n.3410_3413del
NR_047595.2:n.3383+3269_3383+3272del