Canonical Allele Identifier: CA608685735

Gene: CENPJ RNF17

Linked Data

• dbSNP Id: rs1192323222
• gnomAD v2: 13-25457143-T-TATCA
• gnomAD v3: 13-24883005-T-TATCA
• gnomAD v4: 13-24883005-T-TATCA
• MyVariant Identifiers: chr13:g.25457143_25457144insATCA (hg19) ; chr13:g.24883005_24883006insATCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24883006_24883009dup , CM000675.2:g.24883006_24883009dup	GRCh38
NC_000013.10:g.25457144_25457147dup , CM000675.1:g.25457144_25457147dup	GRCh37
NC_000013.9:g.24355144_24355147dup	NCBI36
NG_009165.2:g.44939_44942dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381884.9:c.*168_*171dup (CENPJ) MANE Select	ENSP00000371308.4:n.*168_*171dup
ENST00000616936.4:c.*839_*842dup (CENPJ)	ENSP00000477511.1:n.*839_*842dup
NM_018451.4:c.*168_*171dup (CENPJ)	NP_060921.3:n.*168_*171dup
NR_047594.1:n.4497_4500dup (CENPJ)
NR_047595.1:n.4295_4298dup (CENPJ)
XM_011535156.1:c.*10+3711_*10+3714dup (RNF17)	XP_011533458.1:n.*10+3711_*10+3714dup
XM_011535156.2:c.*10+3711_*10+3714dup (RNF17)	XP_011533458.1:n.*10+3711_*10+3714dup
NM_018451.5:c.*168_*171dup (CENPJ) MANE Select	NP_060921.3:n.*168_*171dup
NR_047594.2:n.4469_4472dup (CENPJ)
NR_047595.2:n.4267_4270dup (CENPJ)