Canonical Allele Identifier: CA608685752

Gene: CENPJ RNF17

Linked Data

• dbSNP Id: rs1445681439
• gnomAD v2: 13-25457281-C-CAGTT
• gnomAD v3: 13-24883143-C-CAGTT
• gnomAD v4: 13-24883143-C-CAGTT
• MyVariant Identifiers: chr13:g.25457281_25457282insAGTT (hg19) ; chr13:g.24883143_24883144insAGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24883145_24883148dup , CM000675.2:g.24883145_24883148dup	GRCh38
NC_000013.10:g.25457283_25457286dup , CM000675.1:g.25457283_25457286dup	GRCh37
NC_000013.9:g.24355283_24355286dup	NCBI36
NG_009165.2:g.44801_44804dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381884.9:c.*30_*33dup (CENPJ) MANE Select	ENSP00000371308.4:n.*30_*33dup
ENST00000381884.8:c.*30_*33dup (CENPJ)	ENSP00000371308.4:n.*30_*33dup
ENST00000616936.4:c.*701_*704dup (CENPJ)	ENSP00000477511.1:n.*701_*704dup
NM_018451.4:c.*30_*33dup (CENPJ)	NP_060921.3:n.*30_*33dup
NR_047594.1:n.4359_4362dup (CENPJ)
NR_047595.1:n.4157_4160dup (CENPJ)
XM_011535156.1:c.*10+3850_*10+3853dup (RNF17)	XP_011533458.1:n.*10+3850_*10+3853dup
XM_011535156.2:c.*10+3850_*10+3853dup (RNF17)	XP_011533458.1:n.*10+3850_*10+3853dup
NM_018451.5:c.*30_*33dup (CENPJ) MANE Select	NP_060921.3:n.*30_*33dup
NR_047594.2:n.4331_4334dup (CENPJ)
NR_047595.2:n.4129_4132dup (CENPJ)