Canonical Allele Identifier: CA696759506

Gene: CENPJ RNF17

Linked Data

• dbSNP Id: rs1555294445
• gnomAD v4: 13-24883005-T-TATC
• MyVariant Identifiers: chr13:g.25457143_25457144insATC (hg19) ; chr13:g.24883005_24883006insATC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24883008_24883010dup , CM000675.2:g.24883008_24883010dup	GRCh38
NC_000013.10:g.25457146_25457148dup , CM000675.1:g.25457146_25457148dup	GRCh37
NC_000013.9:g.24355146_24355148dup	NCBI36
NG_009165.2:g.44940_44942dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381884.9:c.*169_*171dup (CENPJ) MANE Select	ENSP00000371308.4:n.*169_*171dup
ENST00000616936.4:c.*840_*842dup (CENPJ)	ENSP00000477511.1:n.*840_*842dup
NM_018451.4:c.*169_*171dup (CENPJ)	NP_060921.3:n.*169_*171dup
NR_047594.1:n.4498_4500dup (CENPJ)
NR_047595.1:n.4296_4298dup (CENPJ)
XM_011535156.1:c.*10+3713_*10+3715dup (RNF17)	XP_011533458.1:n.*10+3713_*10+3715dup
XM_011535156.2:c.*10+3713_*10+3715dup (RNF17)	XP_011533458.1:n.*10+3713_*10+3715dup
NM_018451.5:c.*169_*171dup (CENPJ) MANE Select	NP_060921.3:n.*169_*171dup
NR_047594.2:n.4470_4472dup (CENPJ)
NR_047595.2:n.4268_4270dup (CENPJ)