Canonical Allele Identifier: CA16619621

Gene: CENPJ

Linked Data

• ClinVar Variation Id: 419675
• ClinVar RCV Id: RCV000481467
• dbSNP Id: rs1064794036
• gnomAD v4: 13-24905869-CCT-C
• MyVariant Identifiers: chr13:g.25480008_25480009del (hg19) ; chr13:g.24905870_24905871del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24905876_24905877del , CM000675.2:g.24905876_24905877del	GRCh38
NC_000013.10:g.25480014_25480015del , CM000675.1:g.25480014_25480015del	GRCh37
NC_000013.9:g.24378014_24378015del	NCBI36
NG_009165.2:g.22077_22078del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381884.9:c.2167_2168del MANE Select	ENSP00000371308.4:p.Arg723GlyfsTer8
ENST00000545981.6:c.2167_2168del	ENSP00000441090.2:p.Arg723GlyfsTer8
ENST00000381884.8:c.2167_2168del	ENSP00000371308.4:p.Arg723GlyfsTer8
ENST00000545981.5:c.2167_2168del	ENSP00000441090.2:p.Arg723GlyfsTer8
ENST00000616936.4:c.2167_2168del	ENSP00000477511.1:p.Arg723GlyfsTer8
NM_018451.4:c.2167_2168del	NP_060921.3:p.Arg723GlyfsTer8
NR_047594.1:n.2362_2363del
NR_047595.1:n.2362_2363del
XM_011535149.1:c.2167_2168del	XP_011533451.1:p.Arg723GlyfsTer8
XM_011535150.1:c.2167_2168del	XP_011533452.1:p.Arg723GlyfsTer8
XM_011535151.1:c.2167_2168del	XP_011533453.1:p.Arg723GlyfsTer8
XR_941627.1:n.2362_2363del
XR_941628.1:n.2362_2363del
XM_011535149.2:c.2167_2168del	XP_011533451.1:p.Arg723GlyfsTer8
XM_011535150.2:c.2167_2168del	XP_011533452.1:p.Arg723GlyfsTer8
XM_017020673.1:c.2167_2168del	XP_016876162.1:p.Arg723GlyfsTer8
NM_018451.5:c.2167_2168del MANE Select	NP_060921.3:p.Arg723GlyfsTer8
NR_047594.2:n.2334_2335del
NR_047595.2:n.2334_2335del