Canonical Allele Identifier: CA251900

Gene: CUL7

Linked Data

• ClinVar Variation Id: 1615
• ClinVar RCV Id: RCV000001682 ; RCV003390632
• dbSNP Id: rs730880261
• gnomAD v4: 6-43038680-CCA-C
• MyVariant Identifiers: chr6:g.43006419_43006420del (hg19) ; chr6:g.43038681_43038682del (hg38)
• PubMed: PMID:16142236 ; PMID:19225462

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43038683_43038684del , CM000668.2:g.43038683_43038684del	GRCh38
NC_000006.11:g.43006421_43006422del , CM000668.1:g.43006421_43006422del	GRCh37
NC_000006.10:g.43114399_43114400del	NCBI36
NG_016205.1:g.20264_20265del

Transcript Alleles

HGVS	Amino-acid change
ENST00000478630.2:n.2671_2672del
ENST00000674112.2:c.4451_4452del	ENSP00000501166.2:p.Val1484GlyfsTer?
ENST00000683242.1:n.998_999del
ENST00000685042.1:c.*1107_*1108del	ENSP00000509871.1:n.*1107_*1108del
ENST00000686442.1:n.5329_5330del
ENST00000687225.1:c.*2748_*2749del	ENSP00000509364.1:n.*2748_*2749del
ENST00000688302.1:n.4883_4884del
ENST00000689256.1:n.5028_5029del
ENST00000690231.1:c.4451_4452del	ENSP00000508461.1:p.Val1484GlyfsTer?
ENST00000692002.1:c.464_465del	ENSP00000508567.1:p.Val155GlyfsTer?
ENST00000265348.9:c.4451_4452del MANE Select	ENSP00000265348.4:p.Val1484GlyfsTer?
ENST00000673725.1:c.2322_2323del
ENST00000673753.1:n.5290_5291del
ENST00000674100.1:c.4547_4548del	ENSP00000501292.1:p.Val1516GlyfsTer?
ENST00000674112.1:c.2943_2944del
ENST00000674134.1:c.4547_4548del	ENSP00000501068.1:p.Val1516GlyfsTer?
ENST00000265348.7:c.4451_4452del	ENSP00000265348.3:p.Val1484GlyfsTer?
ENST00000535468.1:c.4703_4704del	ENSP00000438788.1:p.Val1568GlyfsTer?
NM_001168370.1:c.4703_4704del	NP_001161842.1:p.Val1568GlyfsTer?
NM_014780.4:c.4451_4452del	NP_055595.2:p.Val1484GlyfsTer?
XM_005249503.1:c.4607_4608del	XP_005249560.1:p.Val1536GlyfsTer?
XM_006715285.1:c.4547_4548del	XP_006715348.1:p.Val1516GlyfsTer?
XM_011515019.1:c.4703_4704del	XP_011513321.1:p.Val1568GlyfsTer?
XM_011515020.1:c.4607_4608del	XP_011513322.1:p.Val1536GlyfsTer?
XM_011515021.1:c.2312_2313del	XP_011513323.1:p.Val771GlyfsTer?
XM_005249503.3:c.4607_4608del	XP_005249560.1:p.Val1536GlyfsTer?
XM_006715285.2:c.4547_4548del	XP_006715348.1:p.Val1516GlyfsTer?
XM_011515019.2:c.4703_4704del	XP_011513321.1:p.Val1568GlyfsTer?
XM_011515020.2:c.4607_4608del	XP_011513322.1:p.Val1536GlyfsTer?
XM_017011533.1:c.4730_4731del	XP_016867022.1:p.Val1577GlyfsTer?
XM_017011534.1:c.4730_4731del	XP_016867023.1:p.Val1577GlyfsTer?
XM_017011535.1:c.4634_4635del	XP_016867024.1:p.Val1545GlyfsTer?
XM_017011536.2:c.4574_4575del	XP_016867025.1:p.Val1525GlyfsTer?
XM_017011537.2:c.4547_4548del	XP_016867026.1:p.Val1516GlyfsTer?
XM_017011538.2:c.4478_4479del	XP_016867027.1:p.Val1493GlyfsTer?
XM_017011539.2:c.4451_4452del	XP_016867028.1:p.Val1484GlyfsTer?
NM_001168370.2:c.4547_4548del	NP_001161842.2:p.Val1516GlyfsTer?
NM_001374872.1:c.4547_4548del	NP_001361801.1:p.Val1516GlyfsTer?
NM_001374873.1:c.4451_4452del	NP_001361802.1:p.Val1484GlyfsTer?
NM_001374874.1:c.4448_4449del	NP_001361803.1:p.Val1483GlyfsTer?
NM_014780.5:c.4451_4452del MANE Select	NP_055595.2:p.Val1484GlyfsTer?