Canonical Allele Identifier: CA2678808296

Gene: CUL7 KLC4

Linked Data

• gnomAD v4: 6-43051100-ATTGCCAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43051105_43051111del , CM000668.2:g.43051105_43051111del	GRCh38
NC_000006.11:g.43018843_43018849del , CM000668.1:g.43018843_43018849del	GRCh37
NC_000006.10:g.43126821_43126827del	NCBI36
NG_016205.1:g.7839_7845del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674112.2:c.1094_1100del (CUL7)	ENSP00000501166.2:p.Ser365IlefsTer?
ENST00000683160.1:n.1476_1482del (CUL7)
ENST00000683493.1:n.1135_1141del (CUL7)
ENST00000685042.1:c.1094_1100del (CUL7)	ENSP00000509871.1:p.Ser365IlefsTer?
ENST00000686442.1:n.1377_1383del (CUL7)
ENST00000687225.1:c.1190_1196del (CUL7)	ENSP00000509364.1:p.Ser397IlefsTer?
ENST00000688302.1:n.1377_1383del (CUL7)
ENST00000688707.1:c.1190_1196del (CUL7)	ENSP00000510608.1:p.Ser397IlefsTer?
ENST00000689256.1:n.1393_1399del (CUL7)
ENST00000690231.1:c.1094_1100del (CUL7)	ENSP00000508461.1:p.Ser365IlefsTer?
ENST00000265348.9:c.1094_1100del (CUL7) MANE Select	ENSP00000265348.4:p.Ser365IlefsTer?
ENST00000673753.1:n.1428_1434del (CUL7)
ENST00000673761.1:c.1845_1851del	ENSP00000501018.1:n.1845_1851del
ENST00000674100.1:c.1190_1196del (CUL7)	ENSP00000501292.1:p.Ser397IlefsTer?
ENST00000674134.1:c.1190_1196del (CUL7)	ENSP00000501068.1:p.Ser397IlefsTer?
ENST00000265348.7:c.1094_1100del (CUL7)	ENSP00000265348.3:p.Ser365IlefsTer?
ENST00000467906.5:c.-553+7597_-553+7603del (KLC4)	ENSP00000418759.1:n.-553+7597_-553+7603del
ENST00000535468.1:c.1346_1352del (CUL7)	ENSP00000438788.1:p.Ser449IlefsTer?
NM_001168370.1:c.1346_1352del (CUL7)	NP_001161842.1:p.Ser449IlefsTer?
NM_014780.4:c.1094_1100del (CUL7)	NP_055595.2:p.Ser365IlefsTer?
XM_005249503.1:c.1250_1256del (CUL7)	XP_005249560.1:p.Ser417IlefsTer?
XM_006715285.1:c.1190_1196del (CUL7)	XP_006715348.1:p.Ser397IlefsTer?
XM_011515019.1:c.1346_1352del (CUL7)	XP_011513321.1:p.Ser449IlefsTer?
XM_011515020.1:c.1250_1256del (CUL7)	XP_011513322.1:p.Ser417IlefsTer?
XM_005249503.3:c.1250_1256del (CUL7)	XP_005249560.1:p.Ser417IlefsTer?
XM_006715285.2:c.1190_1196del (CUL7)	XP_006715348.1:p.Ser397IlefsTer?
XM_011515019.2:c.1346_1352del (CUL7)	XP_011513321.1:p.Ser449IlefsTer?
XM_011515020.2:c.1250_1256del (CUL7)	XP_011513322.1:p.Ser417IlefsTer?
XM_017011533.1:c.1346_1352del (CUL7)	XP_016867022.1:p.Ser449IlefsTer?
XM_017011534.1:c.1346_1352del (CUL7)	XP_016867023.1:p.Ser449IlefsTer?
XM_017011535.1:c.1250_1256del (CUL7)	XP_016867024.1:p.Ser417IlefsTer?
XM_017011536.2:c.1190_1196del (CUL7)	XP_016867025.1:p.Ser397IlefsTer?
XM_017011537.2:c.1190_1196del (CUL7)	XP_016867026.1:p.Ser397IlefsTer?
XM_017011538.2:c.1094_1100del (CUL7)	XP_016867027.1:p.Ser365IlefsTer?
XM_017011539.2:c.1094_1100del (CUL7)	XP_016867028.1:p.Ser365IlefsTer?
XM_017011540.1:c.1346_1352del (CUL7)	XP_016867029.1:p.Ser449IlefsTer?
NM_001168370.2:c.1190_1196del (CUL7)	NP_001161842.2:p.Ser397IlefsTer?
NM_001374872.1:c.1190_1196del (CUL7)	NP_001361801.1:p.Ser397IlefsTer?
NM_001374873.1:c.1094_1100del (CUL7)	NP_001361802.1:p.Ser365IlefsTer?
NM_001374874.1:c.1094_1100del (CUL7)	NP_001361803.1:p.Ser365IlefsTer?
NM_014780.5:c.1094_1100del (CUL7) MANE Select	NP_055595.2:p.Ser365IlefsTer?