Canonical Allele Identifier: CA696759401

Gene: CENPJ RNF17

Linked Data

• dbSNP Id: rs1280724076
• gnomAD v4: 13-24882869-TCTTG-T
• MyVariant Identifiers: chr13:g.25457008_25457011del (hg19) ; chr13:g.24882870_24882873del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24882870_24882873del , CM000675.2:g.24882870_24882873del	GRCh38
NC_000013.10:g.25457008_25457011del , CM000675.1:g.25457008_25457011del	GRCh37
NC_000013.9:g.24355008_24355011del	NCBI36
NG_009165.2:g.45075_45078del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381884.9:c.*304_*307del (CENPJ) MANE Select	ENSP00000371308.4:n.*304_*307del
ENST00000616936.4:c.*975_*978del (CENPJ)	ENSP00000477511.1:n.*975_*978del
NM_018451.4:c.*304_*307del (CENPJ)	NP_060921.3:n.*304_*307del
NR_047594.1:n.4633_4636del (CENPJ)
NR_047595.1:n.4431_4434del (CENPJ)
XM_011535156.1:c.*10+3575_*10+3578del (RNF17)	XP_011533458.1:n.*10+3575_*10+3578del
XM_011535156.2:c.*10+3575_*10+3578del (RNF17)	XP_011533458.1:n.*10+3575_*10+3578del
NM_018451.5:c.*304_*307del (CENPJ) MANE Select	NP_060921.3:n.*304_*307del
NR_047594.2:n.4605_4608del (CENPJ)
NR_047595.2:n.4403_4406del (CENPJ)