Canonical Allele Identifier: CA696776846

Gene: CENPJ

Linked Data

• dbSNP Id: rs1473583315
• gnomAD v3: 13-24906629-GGAGA-G
• gnomAD v4: 13-24906629-GGAGA-G
• MyVariant Identifiers: chr13:g.25480768_25480771del (hg19) ; chr13:g.24906630_24906633del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24906630_24906633del , CM000675.2:g.24906630_24906633del	GRCh38
NC_000013.10:g.25480768_25480771del , CM000675.1:g.25480768_25480771del	GRCh37
NC_000013.9:g.24378768_24378771del	NCBI36
NG_009165.2:g.21315_21318del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381884.9:c.1405_1408del MANE Select	ENSP00000371308.4:p.Ser469ArgfsTer4
ENST00000545981.6:c.1405_1408del	ENSP00000441090.2:p.Ser469ArgfsTer4
ENST00000381884.8:c.1405_1408del	ENSP00000371308.4:p.Ser469ArgfsTer4
ENST00000545981.5:c.1405_1408del	ENSP00000441090.2:p.Ser469ArgfsTer4
ENST00000616936.4:c.1405_1408del	ENSP00000477511.1:p.Ser469ArgfsTer4
NM_018451.4:c.1405_1408del	NP_060921.3:p.Ser469ArgfsTer4
NR_047594.1:n.1600_1603del
NR_047595.1:n.1600_1603del
XM_011535149.1:c.1405_1408del	XP_011533451.1:p.Ser469ArgfsTer4
XM_011535150.1:c.1405_1408del	XP_011533452.1:p.Ser469ArgfsTer4
XM_011535151.1:c.1405_1408del	XP_011533453.1:p.Ser469ArgfsTer4
XR_941627.1:n.1600_1603del
XR_941628.1:n.1600_1603del
XM_011535149.2:c.1405_1408del	XP_011533451.1:p.Ser469ArgfsTer4
XM_011535150.2:c.1405_1408del	XP_011533452.1:p.Ser469ArgfsTer4
XM_017020673.1:c.1405_1408del	XP_016876162.1:p.Ser469ArgfsTer4
NM_018451.5:c.1405_1408del MANE Select	NP_060921.3:p.Ser469ArgfsTer4
NR_047594.2:n.1572_1575del
NR_047595.2:n.1572_1575del