Canonical Allele Identifier: CA249679

Gene: CENPJ

Linked Data

• ClinVar Variation Id: 210658
• ClinVar RCV Id: RCV000192528
• dbSNP Id: rs797045448
• MyVariant Identifiers: chr13:g.25480325_25480326del (hg19) ; chr13:g.24906187_24906188del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24906187_24906188del , CM000675.2:g.24906187_24906188del	GRCh38
NC_000013.10:g.25480325_25480326del , CM000675.1:g.25480325_25480326del	GRCh37
NC_000013.9:g.24378325_24378326del	NCBI36
NG_009165.2:g.21760_21761del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381884.9:c.1850_1851del MANE Select	ENSP00000371308.4:p.Pro617ArgfsTer15
ENST00000545981.6:c.1850_1851del	ENSP00000441090.2:p.Pro617ArgfsTer15
ENST00000381884.8:c.1850_1851del	ENSP00000371308.4:p.Pro617ArgfsTer15
ENST00000545981.5:c.1850_1851del	ENSP00000441090.2:p.Pro617ArgfsTer15
ENST00000616936.4:c.1850_1851del	ENSP00000477511.1:p.Pro617ArgfsTer15
NM_018451.4:c.1850_1851del	NP_060921.3:p.Pro617ArgfsTer15
NR_047594.1:n.2045_2046del
NR_047595.1:n.2045_2046del
XM_011535149.1:c.1850_1851del	XP_011533451.1:p.Pro617ArgfsTer15
XM_011535150.1:c.1850_1851del	XP_011533452.1:p.Pro617ArgfsTer15
XM_011535151.1:c.1850_1851del	XP_011533453.1:p.Pro617ArgfsTer15
XR_941627.1:n.2045_2046del
XR_941628.1:n.2045_2046del
XM_011535149.2:c.1850_1851del	XP_011533451.1:p.Pro617ArgfsTer15
XM_011535150.2:c.1850_1851del	XP_011533452.1:p.Pro617ArgfsTer15
XM_017020673.1:c.1850_1851del	XP_016876162.1:p.Pro617ArgfsTer15
NM_018451.5:c.1850_1851del MANE Select	NP_060921.3:p.Pro617ArgfsTer15
NR_047594.2:n.2017_2018del
NR_047595.2:n.2017_2018del