Canonical Allele Identifier: CA2622386442

Gene: CENPJ RNF17

Linked Data

• gnomAD v4: 13-24882861-CCTGTACTTCTTGGTTTTTTTTTATAGCCATTTCTAACCAATAAACACACCCACTTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24882867_24882922del , CM000675.2:g.24882867_24882922del	GRCh38
NC_000013.10:g.25457005_25457060del , CM000675.1:g.25457005_25457060del	GRCh37
NC_000013.9:g.24355005_24355060del	NCBI36
NG_009165.2:g.45031_45086del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381884.9:c.*260_*315del (CENPJ) MANE Select	ENSP00000371308.4:n.*260_*315del
ENST00000616936.4:c.*931_*986del (CENPJ)	ENSP00000477511.1:n.*931_*986del
NM_018451.4:c.*260_*315del (CENPJ)	NP_060921.3:n.*260_*315del
NR_047594.1:n.4589_4644del (CENPJ)
NR_047595.1:n.4387_4442del (CENPJ)
XM_011535156.1:c.*10+3572_*10+3627del (RNF17)	XP_011533458.1:n.*10+3572_*10+3627del
XM_011535156.2:c.*10+3572_*10+3627del (RNF17)	XP_011533458.1:n.*10+3572_*10+3627del
NM_018451.5:c.*260_*315del (CENPJ) MANE Select	NP_060921.3:n.*260_*315del
NR_047594.2:n.4561_4616del (CENPJ)
NR_047595.2:n.4359_4414del (CENPJ)