Canonical Allele Identifier: CA247124051

Gene: CENPJ RNF17

Linked Data

• dbSNP Id: rs985427339
• gnomAD v3: 13-24882979-CAG-C
• gnomAD v4: 13-24882979-CAG-C
• MyVariant Identifiers: chr13:g.25457118_25457119del (hg19) ; chr13:g.24882980_24882981del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24882980_24882981del , CM000675.2:g.24882980_24882981del	GRCh38
NC_000013.10:g.25457118_25457119del , CM000675.1:g.25457118_25457119del	GRCh37
NC_000013.9:g.24355118_24355119del	NCBI36
NG_009165.2:g.44967_44968del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381884.9:c.*196_*197del (CENPJ) MANE Select	ENSP00000371308.4:n.*196_*197del
ENST00000616936.4:c.*867_*868del (CENPJ)	ENSP00000477511.1:n.*867_*868del
NM_018451.4:c.*196_*197del (CENPJ)	NP_060921.3:n.*196_*197del
NR_047594.1:n.4525_4526del (CENPJ)
NR_047595.1:n.4323_4324del (CENPJ)
XM_011535156.1:c.*10+3685_*10+3686del (RNF17)	XP_011533458.1:n.*10+3685_*10+3686del
XM_011535156.2:c.*10+3685_*10+3686del (RNF17)	XP_011533458.1:n.*10+3685_*10+3686del
NM_018451.5:c.*196_*197del (CENPJ) MANE Select	NP_060921.3:n.*196_*197del
NR_047594.2:n.4497_4498del (CENPJ)
NR_047595.2:n.4295_4296del (CENPJ)