Canonical Allele Identifier: CA10634095

Gene: CENPJ RNF17

Linked Data

• ClinVar Variation Id: 311605
• ClinVar RCV Id: RCV000346242 ; RCV000399021
• dbSNP Id: rs747303248
• gnomAD v2: 13-25457229-CAAT-C
• gnomAD v3: 13-24883091-CAAT-C
• gnomAD v4: 13-24883091-CAAT-C
• MyVariant Identifiers: chr13:g.25457230_25457232del (hg19) ; chr13:g.24883092_24883094del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24883094_24883096del , CM000675.2:g.24883094_24883096del	GRCh38
NC_000013.10:g.25457232_25457234del , CM000675.1:g.25457232_25457234del	GRCh37
NC_000013.9:g.24355232_24355234del	NCBI36
NG_009165.2:g.44854_44856del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381884.9:c.*83_*85del (CENPJ) MANE Select	ENSP00000371308.4:n.*83_*85del
ENST00000381884.8:c.*83_*85del (CENPJ)	ENSP00000371308.4:n.*83_*85del
ENST00000616936.4:c.*754_*756del (CENPJ)	ENSP00000477511.1:n.*754_*756del
NM_018451.4:c.*83_*85del (CENPJ)	NP_060921.3:n.*83_*85del
NR_047594.1:n.4412_4414del (CENPJ)
NR_047595.1:n.4210_4212del (CENPJ)
XM_011535156.1:c.*10+3799_*10+3801del (RNF17)	XP_011533458.1:n.*10+3799_*10+3801del
XM_011535156.2:c.*10+3799_*10+3801del (RNF17)	XP_011533458.1:n.*10+3799_*10+3801del
NM_018451.5:c.*83_*85del (CENPJ) MANE Select	NP_060921.3:n.*83_*85del
NR_047594.2:n.4384_4386del (CENPJ)
NR_047595.2:n.4182_4184del (CENPJ)