Canonical Allele Identifier: CA2678807750

Gene: CUL7 KLC4

Linked Data

• dbSNP Id: rs2150329542
• gnomAD v4: 6-43048533-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43048537del , CM000668.2:g.43048537del	GRCh38
NC_000006.11:g.43016275del , CM000668.1:g.43016275del	GRCh37
NC_000006.10:g.43124253del	NCBI36
NG_016205.1:g.10412del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674112.2:c.1861del (CUL7)	ENSP00000501166.2:p.Leu621CysfsTer18
ENST00000685042.1:c.1861del (CUL7)	ENSP00000509871.1:p.Leu621CysfsTer18
ENST00000686442.1:n.2144del (CUL7)
ENST00000687225.1:c.1957del (CUL7)	ENSP00000509364.1:p.Leu653CysfsTer18
ENST00000688302.1:n.2144del (CUL7)
ENST00000689256.1:n.2160del (CUL7)
ENST00000690231.1:c.1861del (CUL7)	ENSP00000508461.1:p.Leu621CysfsTer18
ENST00000265348.9:c.1861del (CUL7) MANE Select	ENSP00000265348.4:p.Leu621CysfsTer18
ENST00000673753.1:n.2195del (CUL7)
ENST00000674100.1:c.1957del (CUL7)	ENSP00000501292.1:p.Leu653CysfsTer18
ENST00000674112.1:c.353del (CUL7)
ENST00000674134.1:c.1957del (CUL7)	ENSP00000501068.1:p.Leu653CysfsTer18
ENST00000265348.7:c.1861del (CUL7)	ENSP00000265348.3:p.Leu621CysfsTer18
ENST00000467906.5:c.-553+5029del (KLC4)	ENSP00000418759.1:n.-553+5029del
ENST00000535468.1:c.2113del (CUL7)	ENSP00000438788.1:p.Leu705CysfsTer18
NM_001168370.1:c.2113del (CUL7)	NP_001161842.1:p.Leu705CysfsTer18
NM_014780.4:c.1861del (CUL7)	NP_055595.2:p.Leu621CysfsTer18
XM_005249503.1:c.2017del (CUL7)	XP_005249560.1:p.Leu673CysfsTer18
XM_006715285.1:c.1957del (CUL7)	XP_006715348.1:p.Leu653CysfsTer18
XM_011515019.1:c.2113del (CUL7)	XP_011513321.1:p.Leu705CysfsTer18
XM_011515020.1:c.2017del (CUL7)	XP_011513322.1:p.Leu673CysfsTer18
XM_011515021.1:c.-322del (CUL7)	XP_011513323.1:n.-322del
XM_005249503.3:c.2017del (CUL7)	XP_005249560.1:p.Leu673CysfsTer18
XM_006715285.2:c.1957del (CUL7)	XP_006715348.1:p.Leu653CysfsTer18
XM_011515019.2:c.2113del (CUL7)	XP_011513321.1:p.Leu705CysfsTer18
XM_011515020.2:c.2017del (CUL7)	XP_011513322.1:p.Leu673CysfsTer18
XM_017011533.1:c.2140del (CUL7)	XP_016867022.1:p.Leu714CysfsTer18
XM_017011534.1:c.2140del (CUL7)	XP_016867023.1:p.Leu714CysfsTer18
XM_017011535.1:c.2044del (CUL7)	XP_016867024.1:p.Leu682CysfsTer18
XM_017011536.2:c.1984del (CUL7)	XP_016867025.1:p.Leu662CysfsTer18
XM_017011537.2:c.1957del (CUL7)	XP_016867026.1:p.Leu653CysfsTer18
XM_017011538.2:c.1888del (CUL7)	XP_016867027.1:p.Leu630CysfsTer18
XM_017011539.2:c.1861del (CUL7)	XP_016867028.1:p.Leu621CysfsTer18
XM_017011540.1:c.2140del (CUL7)	XP_016867029.1:p.Leu714CysfsTer18
NM_001168370.2:c.1957del (CUL7)	NP_001161842.2:p.Leu653CysfsTer18
NM_001374872.1:c.1957del (CUL7)	NP_001361801.1:p.Leu653CysfsTer18
NM_001374873.1:c.1861del (CUL7)	NP_001361802.1:p.Leu621CysfsTer18
NM_001374874.1:c.1861del (CUL7)	NP_001361803.1:p.Leu621CysfsTer18
NM_014780.5:c.1861del (CUL7) MANE Select	NP_055595.2:p.Leu621CysfsTer18