Canonical Allele Identifier: CA10639266
Gene: CENPJ HGNC NCBI
RNF17 HGNC NCBI

Linked Data

ClinVar Variation Id: 311601
ClinVar RCV Id: RCV000260457 RCV000373910
dbSNP Id: rs138938177
gnomAD v2: 13-25457012-GT-G
gnomAD v3: 13-24882874-GT-G
gnomAD v4: 13-24882874-GT-G
COSMIC: COSN20110436 COSN20110437 COSN20110438 COSN20110439
MyVariant Identifiers: chr13:g.25457013del (hg19) chr13:g.24882875del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.24882883del , CM000675.2:g.24882883del GRCh38
NC_000013.10:g.25457021del , CM000675.1:g.25457021del GRCh37
NC_000013.9:g.24355021del NCBI36
NG_009165.2:g.45073del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381884.9:c.*302del (CENPJ) MANE Select ENSP00000371308.4:n.*302del
ENST00000616936.4:c.*973del (CENPJ) ENSP00000477511.1:n.*973del
NM_018451.4:c.*302del (CENPJ) NP_060921.3:n.*302del
NR_047594.1:n.4631del (CENPJ)
NR_047595.1:n.4429del (CENPJ)
XM_011535156.1:c.*10+3588del (RNF17) XP_011533458.1:n.*10+3588del
XM_011535156.2:c.*10+3588del (RNF17) XP_011533458.1:n.*10+3588del
NM_018451.5:c.*302del (CENPJ) MANE Select NP_060921.3:n.*302del
NR_047594.2:n.4603del (CENPJ)
NR_047595.2:n.4401del (CENPJ)
Search 100 bp 5'
Search 100 bp 3'