Canonical Allele Identifier: CA608685780

Gene: CENPJ RNF17

Linked Data

• dbSNP Id: rs1566275140
• gnomAD v2: 13-25457390-TTGA-T
• gnomAD v4: 13-24883252-TTGA-T
• MyVariant Identifiers: chr13:g.25457391_25457393del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24883256_24883258del , CM000675.2:g.24883256_24883258del	GRCh38
NC_000013.10:g.25457394_25457396del , CM000675.1:g.25457394_25457396del	GRCh37
NC_000013.9:g.24355394_24355396del	NCBI36
NG_009165.2:g.44693_44695del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381884.9:c.3939_3941del (CENPJ) MANE Select	ENSP00000371308.4:p.His1313del
ENST00000545981.6:c.*679_*681del (CENPJ)	ENSP00000441090.2:n.*679_*681del
ENST00000381884.8:c.3939_3941del (CENPJ)	ENSP00000371308.4:p.His1313del
ENST00000545981.5:c.*680_*682del (CENPJ)	ENSP00000441090.2:n.*680_*682del
ENST00000616936.4:c.*593_*595del (CENPJ)	ENSP00000477511.1:n.*593_*595del
NM_018451.4:c.3939_3941del (CENPJ)	NP_060921.3:p.His1313del
NR_047594.1:n.4251_4253del (CENPJ)
NR_047595.1:n.4049_4051del (CENPJ)
XM_011535156.1:c.*10+3961_*10+3963del (RNF17)	XP_011533458.1:n.*10+3961_*10+3963del
XM_011535156.2:c.*10+3961_*10+3963del (RNF17)	XP_011533458.1:n.*10+3961_*10+3963del
NM_018451.5:c.3939_3941del (CENPJ) MANE Select	NP_060921.3:p.His1313del
NR_047594.2:n.4223_4225del (CENPJ)
NR_047595.2:n.4021_4023del (CENPJ)