Canonical Allele Identifier: CA2678806100

Gene: CUL7 KLC4

Linked Data

• gnomAD v4: 6-43042803-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43042806del , CM000668.2:g.43042806del	GRCh38
NC_000006.11:g.43010544del , CM000668.1:g.43010544del	GRCh37
NC_000006.10:g.43118522del	NCBI36
NG_016205.1:g.16142del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478630.2:n.1714del (CUL7)
ENST00000674112.2:c.3643del (CUL7)	ENSP00000501166.2:p.His1215ThrfsTer2
ENST00000685042.1:c.*299del (CUL7)	ENSP00000509871.1:n.*299del
ENST00000686442.1:n.4204del (CUL7)
ENST00000687225.1:c.*1940del (CUL7)	ENSP00000509364.1:n.*1940del
ENST00000688302.1:n.3926del (CUL7)
ENST00000689256.1:n.4220del (CUL7)
ENST00000690231.1:c.3643del (CUL7)	ENSP00000508461.1:p.His1215ThrfsTer2
ENST00000265348.9:c.3643del (CUL7) MANE Select	ENSP00000265348.4:p.His1215ThrfsTer2
ENST00000673725.1:c.1514del (CUL7)
ENST00000673753.1:n.4482del (CUL7)
ENST00000674100.1:c.3739del (CUL7)	ENSP00000501292.1:p.His1247ThrfsTer2
ENST00000674112.1:c.2135del (CUL7)
ENST00000674134.1:c.3739del (CUL7)	ENSP00000501068.1:p.His1247ThrfsTer2
ENST00000265348.7:c.3643del (CUL7)	ENSP00000265348.3:p.His1215ThrfsTer2
ENST00000467906.5:c.-1003-252del (KLC4)	ENSP00000418759.1:n.-1003-252del
ENST00000535468.1:c.3895del (CUL7)	ENSP00000438788.1:p.His1299ThrfsTer2
NM_001168370.1:c.3895del (CUL7)	NP_001161842.1:p.His1299ThrfsTer2
NM_014780.4:c.3643del (CUL7)	NP_055595.2:p.His1215ThrfsTer2
XM_005249503.1:c.3799del (CUL7)	XP_005249560.1:p.His1267ThrfsTer2
XM_006715285.1:c.3739del (CUL7)	XP_006715348.1:p.His1247ThrfsTer2
XM_011515019.1:c.3895del (CUL7)	XP_011513321.1:p.His1299ThrfsTer2
XM_011515020.1:c.3799del (CUL7)	XP_011513322.1:p.His1267ThrfsTer2
XM_011515021.1:c.1504del (CUL7)	XP_011513323.1:p.His502ThrfsTer2
XM_005249503.3:c.3799del (CUL7)	XP_005249560.1:p.His1267ThrfsTer2
XM_006715285.2:c.3739del (CUL7)	XP_006715348.1:p.His1247ThrfsTer2
XM_011515019.2:c.3895del (CUL7)	XP_011513321.1:p.His1299ThrfsTer2
XM_011515020.2:c.3799del (CUL7)	XP_011513322.1:p.His1267ThrfsTer2
XM_017011533.1:c.3922del (CUL7)	XP_016867022.1:p.His1308ThrfsTer2
XM_017011534.1:c.3922del (CUL7)	XP_016867023.1:p.His1308ThrfsTer2
XM_017011535.1:c.3826del (CUL7)	XP_016867024.1:p.His1276ThrfsTer2
XM_017011536.2:c.3766del (CUL7)	XP_016867025.1:p.His1256ThrfsTer2
XM_017011537.2:c.3739del (CUL7)	XP_016867026.1:p.His1247ThrfsTer2
XM_017011538.2:c.3670del (CUL7)	XP_016867027.1:p.His1224ThrfsTer2
XM_017011539.2:c.3643del (CUL7)	XP_016867028.1:p.His1215ThrfsTer2
NM_001168370.2:c.3739del (CUL7)	NP_001161842.2:p.His1247ThrfsTer2
NM_001374872.1:c.3739del (CUL7)	NP_001361801.1:p.His1247ThrfsTer2
NM_001374873.1:c.3643del (CUL7)	NP_001361802.1:p.His1215ThrfsTer2
NM_001374874.1:c.3640del (CUL7)	NP_001361803.1:p.His1214ThrfsTer2
NM_014780.5:c.3643del (CUL7) MANE Select	NP_055595.2:p.His1215ThrfsTer2