Canonical Allele Identifier: CA608685723

Gene: CENPJ RNF17

Linked Data

• dbSNP Id: rs1370322655
• gnomAD v2: 13-25457040-T-TAAAC
• gnomAD v3: 13-24882902-T-TAAAC
• gnomAD v4: 13-24882902-T-TAAAC
• MyVariant Identifiers: chr13:g.25457040_25457041insAAAC (hg19) ; chr13:g.24882902_24882903insAAAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24882904_24882907dup , CM000675.2:g.24882904_24882907dup	GRCh38
NC_000013.10:g.25457042_25457045dup , CM000675.1:g.25457042_25457045dup	GRCh37
NC_000013.9:g.24355042_24355045dup	NCBI36
NG_009165.2:g.45042_45045dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381884.9:c.*271_*274dup (CENPJ) MANE Select	ENSP00000371308.4:n.*271_*274dup
ENST00000616936.4:c.*942_*945dup (CENPJ)	ENSP00000477511.1:n.*942_*945dup
NM_018451.4:c.*271_*274dup (CENPJ)	NP_060921.3:n.*271_*274dup
NR_047594.1:n.4600_4603dup (CENPJ)
NR_047595.1:n.4398_4401dup (CENPJ)
XM_011535156.1:c.*10+3609_*10+3612dup (RNF17)	XP_011533458.1:n.*10+3609_*10+3612dup
XM_011535156.2:c.*10+3609_*10+3612dup (RNF17)	XP_011533458.1:n.*10+3609_*10+3612dup
NM_018451.5:c.*271_*274dup (CENPJ) MANE Select	NP_060921.3:n.*271_*274dup
NR_047594.2:n.4572_4575dup (CENPJ)
NR_047595.2:n.4370_4373dup (CENPJ)