Canonical Allele Identifier: CA199167

Gene: NEK8

Linked Data

• ClinVar Variation Id: 189238
• ClinVar RCV Id: RCV000169669
• dbSNP Id: rs786204782
• ExAC: 17:27055876 CG / C
• gnomAD v2: 17-27055876-CG-C
• gnomAD v3: 17-28728858-CG-C
• gnomAD v4: 17-28728858-CG-C
• MyVariant Identifiers: chr17:g.27055879del (hg19) ; chr17:g.27055877del (hg19) ; chr17:g.28728861del (hg38) ; chr17:g.28728860del (hg38) ; chr17:g.28728859del (hg38)
• PubMed: PMID:23274954 ; PMID:23418306

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28728861del , CM000679.2:g.28728861del	GRCh38
NC_000017.10:g.27055879del , CM000679.1:g.27055879del	GRCh37
NC_000017.9:g.24080006del	NCBI36
NG_012263.1:g.5048del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268766.11:c.47+1del
ENST00000268766.10:c.47+1del
ENST00000543014.1:c.47+1del
ENST00000579060.5:c.-71+2858del	ENSP00000466896.1:n.-71+2858del
ENST00000579671.5:c.-71+2889del	ENSP00000467335.1:n.-71+2889del
ENST00000581000.1:n.47+1del
ENST00000584342.5:n.84+2858del
ENST00000593261.1:n.45+1del
NM_178170.2:c.47+1del
XM_011524638.1:c.119+605del	XP_011522940.1:n.119+605del
XM_011524639.1:c.47+1del
XM_011524640.1:c.119+605del	XP_011522942.1:n.119+605del
XM_011524641.1:c.-71+764del	XP_011522943.1:n.-71+764del
XM_011524642.1:c.-71+2889del	XP_011522944.1:n.-71+2889del
XM_011524643.1:c.-71+871del	XP_011522945.1:n.-71+871del
XM_011524644.1:c.-198+1del
XM_011524645.1:c.119+605del	XP_011522947.1:n.119+605del
XR_934448.1:n.251+605del
NM_178170.3:c.47+1del
XM_011524638.3:c.119+605del	XP_011522940.1:n.119+605del
XM_011524640.3:c.119+605del	XP_011522942.1:n.119+605del
XM_017024499.2:c.47+1del
XM_017024500.2:c.-71+764del	XP_016879989.1:n.-71+764del
XM_017024501.1:c.119+605del	XP_016879990.1:n.119+605del
XR_001752497.2:n.251+605del