Canonical Allele Identifier: CA3813483

Gene: CUL7 KLC4

Linked Data

• dbSNP Id: rs754304637
• ExAC: 6:43010817 TCTC / T
• gnomAD v2: 6-43010817-TCTC-T
• MyVariant Identifiers: chr6:g.43010818_43010820del (hg19) ; chr6:g.43043081_43043083del (hg38) ; chr6:g.43043080_43043082del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43043081_43043083del , CM000668.2:g.43043081_43043083del	GRCh38
NC_000006.11:g.43010819_43010821del , CM000668.1:g.43010819_43010821del	GRCh37
NC_000006.10:g.43118797_43118799del	NCBI36
NG_016205.1:g.15864_15866del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478630.2:n.1525_1527del (CUL7)
ENST00000674112.2:c.3454_3456del (CUL7)	ENSP00000501166.2:p.Glu1152del
ENST00000685042.1:c.*110_*112del (CUL7)	ENSP00000509871.1:n.*110_*112del
ENST00000686442.1:n.4015_4017del (CUL7)
ENST00000687225.1:c.*1751_*1753del (CUL7)	ENSP00000509364.1:n.*1751_*1753del
ENST00000688302.1:n.3737_3739del (CUL7)
ENST00000689256.1:n.4031_4033del (CUL7)
ENST00000690231.1:c.3454_3456del (CUL7)	ENSP00000508461.1:p.Glu1152del
ENST00000265348.9:c.3454_3456del (CUL7) MANE Select	ENSP00000265348.4:p.Glu1152del
ENST00000673725.1:c.1403_1405del (CUL7)
ENST00000673753.1:n.4293_4295del (CUL7)
ENST00000674100.1:c.3550_3552del (CUL7)	ENSP00000501292.1:p.Glu1184del
ENST00000674112.1:c.1946_1948del (CUL7)
ENST00000674134.1:c.3550_3552del (CUL7)	ENSP00000501068.1:p.Glu1184del
ENST00000265348.7:c.3454_3456del (CUL7)	ENSP00000265348.3:p.Glu1152del
ENST00000467906.5:c.-980_-978del (KLC4)	ENSP00000418759.1:n.-980_-978del
ENST00000535468.1:c.3706_3708del (CUL7)	ENSP00000438788.1:p.Glu1236del
NM_001168370.1:c.3706_3708del (CUL7)	NP_001161842.1:p.Glu1236del
NM_014780.4:c.3454_3456del (CUL7)	NP_055595.2:p.Glu1152del
XM_005249503.1:c.3610_3612del (CUL7)	XP_005249560.1:p.Glu1204del
XM_006715285.1:c.3550_3552del (CUL7)	XP_006715348.1:p.Glu1184del
XM_011515019.1:c.3706_3708del (CUL7)	XP_011513321.1:p.Glu1236del
XM_011515020.1:c.3610_3612del (CUL7)	XP_011513322.1:p.Glu1204del
XM_011515021.1:c.1315_1317del (CUL7)	XP_011513323.1:p.Glu439del
XM_005249503.3:c.3610_3612del (CUL7)	XP_005249560.1:p.Glu1204del
XM_006715285.2:c.3550_3552del (CUL7)	XP_006715348.1:p.Glu1184del
XM_011515019.2:c.3706_3708del (CUL7)	XP_011513321.1:p.Glu1236del
XM_011515020.2:c.3610_3612del (CUL7)	XP_011513322.1:p.Glu1204del
XM_017011533.1:c.3733_3735del (CUL7)	XP_016867022.1:p.Glu1245del
XM_017011534.1:c.3733_3735del (CUL7)	XP_016867023.1:p.Glu1245del
XM_017011535.1:c.3637_3639del (CUL7)	XP_016867024.1:p.Glu1213del
XM_017011536.2:c.3577_3579del (CUL7)	XP_016867025.1:p.Glu1193del
XM_017011537.2:c.3550_3552del (CUL7)	XP_016867026.1:p.Glu1184del
XM_017011538.2:c.3481_3483del (CUL7)	XP_016867027.1:p.Glu1161del
XM_017011539.2:c.3454_3456del (CUL7)	XP_016867028.1:p.Glu1152del
NM_001168370.2:c.3550_3552del (CUL7)	NP_001161842.2:p.Glu1184del
NM_001374872.1:c.3550_3552del (CUL7)	NP_001361801.1:p.Glu1184del
NM_001374873.1:c.3454_3456del (CUL7)	NP_001361802.1:p.Glu1152del
NM_001374874.1:c.3451_3453del (CUL7)	NP_001361803.1:p.Glu1151del
NM_014780.5:c.3454_3456del (CUL7) MANE Select	NP_055595.2:p.Glu1152del