Canonical Allele Identifier: CA696759530

Gene: CENPJ RNF17

Linked Data

• dbSNP Id: rs1186248977
• gnomAD v3: 13-24883054-TTTTA-T
• gnomAD v4: 13-24883054-TTTTA-T
• MyVariant Identifiers: chr13:g.25457193_25457196del (hg19) ; chr13:g.24883055_24883058del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24883058_24883061del , CM000675.2:g.24883058_24883061del	GRCh38
NC_000013.10:g.25457196_25457199del , CM000675.1:g.25457196_25457199del	GRCh37
NC_000013.9:g.24355196_24355199del	NCBI36
NG_009165.2:g.44890_44893del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381884.9:c.*119_*122del (CENPJ) MANE Select	ENSP00000371308.4:n.*119_*122del
ENST00000381884.8:c.*119_*122del (CENPJ)	ENSP00000371308.4:n.*119_*122del
ENST00000616936.4:c.*790_*793del (CENPJ)	ENSP00000477511.1:n.*790_*793del
NM_018451.4:c.*119_*122del (CENPJ)	NP_060921.3:n.*119_*122del
NR_047594.1:n.4448_4451del (CENPJ)
NR_047595.1:n.4246_4249del (CENPJ)
XM_011535156.1:c.*10+3763_*10+3766del (RNF17)	XP_011533458.1:n.*10+3763_*10+3766del
XM_011535156.2:c.*10+3763_*10+3766del (RNF17)	XP_011533458.1:n.*10+3763_*10+3766del
NM_018451.5:c.*119_*122del (CENPJ) MANE Select	NP_060921.3:n.*119_*122del
NR_047594.2:n.4420_4423del (CENPJ)
NR_047595.2:n.4218_4221del (CENPJ)