Canonical Allele Identifier: CA3813980

Gene: CUL7 KLC4

Linked Data

• ClinVar Variation Id: 2188222
• ClinVar RCV Id: RCV002620067
• dbSNP Id: rs778027659
• ExAC: 6:43015925 G / GGCA
• gnomAD v2: 6-43015925-G-GGCA
• gnomAD v3: 6-43048187-G-GGCA
• gnomAD v4: 6-43048187-G-GGCA
• MyVariant Identifiers: chr6:g.43015925_43015926insGCA (hg19) ; chr6:g.43048187_43048188insGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43048188_43048190dup , CM000668.2:g.43048188_43048190dup	GRCh38
NC_000006.11:g.43015926_43015928dup , CM000668.1:g.43015926_43015928dup	GRCh37
NC_000006.10:g.43123904_43123906dup	NCBI36
NG_016205.1:g.10756_10758dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674112.2:c.2127_2129dup (CUL7)	ENSP00000501166.2:p.Ala710_Cys711insAla
ENST00000685042.1:c.2127_2129dup (CUL7)	ENSP00000509871.1:p.Ala710_Cys711insAla
ENST00000686442.1:n.2410_2412dup (CUL7)
ENST00000687225.1:c.2223_2225dup (CUL7)	ENSP00000509364.1:p.Ala742_Cys743insAla
ENST00000688302.1:n.2410_2412dup (CUL7)
ENST00000689256.1:n.2426_2428dup (CUL7)
ENST00000690231.1:c.2127_2129dup (CUL7)	ENSP00000508461.1:p.Ala710_Cys711insAla
ENST00000265348.9:c.2127_2129dup (CUL7) MANE Select	ENSP00000265348.4:p.Ala710_Cys711insAla
ENST00000673725.1:c.76_78dup (CUL7)
ENST00000673753.1:n.2461_2463dup (CUL7)
ENST00000674100.1:c.2223_2225dup (CUL7)	ENSP00000501292.1:p.Ala742_Cys743insAla
ENST00000674112.1:c.619_621dup (CUL7)
ENST00000674134.1:c.2223_2225dup (CUL7)	ENSP00000501068.1:p.Ala742_Cys743insAla
ENST00000265348.7:c.2127_2129dup (CUL7)	ENSP00000265348.3:p.Ala710_Cys711insAla
ENST00000467906.5:c.-553+4680_-553+4682dup (KLC4)	ENSP00000418759.1:n.-553+4680_-553+4682dup
ENST00000535468.1:c.2379_2381dup (CUL7)	ENSP00000438788.1:p.Ala794_Cys795insAla
NM_001168370.1:c.2379_2381dup (CUL7)	NP_001161842.1:p.Ala794_Cys795insAla
NM_014780.4:c.2127_2129dup (CUL7)	NP_055595.2:p.Ala710_Cys711insAla
XM_005249503.1:c.2283_2285dup (CUL7)	XP_005249560.1:p.Ala762_Cys763insAla
XM_006715285.1:c.2223_2225dup (CUL7)	XP_006715348.1:p.Ala742_Cys743insAla
XM_011515019.1:c.2379_2381dup (CUL7)	XP_011513321.1:p.Ala794_Cys795insAla
XM_011515020.1:c.2283_2285dup (CUL7)	XP_011513322.1:p.Ala762_Cys763insAla
XM_011515021.1:c.-56_-54dup (CUL7)	XP_011513323.1:n.-56_-54dup
XM_005249503.3:c.2283_2285dup (CUL7)	XP_005249560.1:p.Ala762_Cys763insAla
XM_006715285.2:c.2223_2225dup (CUL7)	XP_006715348.1:p.Ala742_Cys743insAla
XM_011515019.2:c.2379_2381dup (CUL7)	XP_011513321.1:p.Ala794_Cys795insAla
XM_011515020.2:c.2283_2285dup (CUL7)	XP_011513322.1:p.Ala762_Cys763insAla
XM_017011533.1:c.2406_2408dup (CUL7)	XP_016867022.1:p.Ala803_Cys804insAla
XM_017011534.1:c.2406_2408dup (CUL7)	XP_016867023.1:p.Ala803_Cys804insAla
XM_017011535.1:c.2310_2312dup (CUL7)	XP_016867024.1:p.Ala771_Cys772insAla
XM_017011536.2:c.2250_2252dup (CUL7)	XP_016867025.1:p.Ala751_Cys752insAla
XM_017011537.2:c.2223_2225dup (CUL7)	XP_016867026.1:p.Ala742_Cys743insAla
XM_017011538.2:c.2154_2156dup (CUL7)	XP_016867027.1:p.Ala719_Cys720insAla
XM_017011539.2:c.2127_2129dup (CUL7)	XP_016867028.1:p.Ala710_Cys711insAla
XM_017011540.1:c.2406_2408dup (CUL7)	XP_016867029.1:p.Ala803_Cys804insAla
NM_001168370.2:c.2223_2225dup (CUL7)	NP_001161842.2:p.Ala742_Cys743insAla
NM_001374872.1:c.2223_2225dup (CUL7)	NP_001361801.1:p.Ala742_Cys743insAla
NM_001374873.1:c.2127_2129dup (CUL7)	NP_001361802.1:p.Ala710_Cys711insAla
NM_001374874.1:c.2127_2129dup (CUL7)	NP_001361803.1:p.Ala710_Cys711insAla
NM_014780.5:c.2127_2129dup (CUL7) MANE Select	NP_055595.2:p.Ala710_Cys711insAla