Canonical Allele Identifier: CA567150286

Gene: CUL7 KLC4

Linked Data

• dbSNP Id: rs1561878353
• gnomAD v2: 6-43010603-C-CA
• MyVariant Identifiers: chr6:g.43010603_43010604insA (hg19) ; chr6:g.43042865_43042866insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43042867dup , CM000668.2:g.43042867dup	GRCh38
NC_000006.11:g.43010605dup , CM000668.1:g.43010605dup	GRCh37
NC_000006.10:g.43118583dup	NCBI36
NG_016205.1:g.16080dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478630.2:n.1652dup (CUL7)
ENST00000674112.2:c.3581dup (CUL7)	ENSP00000501166.2:p.Leu1194PhefsTer25
ENST00000685042.1:c.*237dup (CUL7)	ENSP00000509871.1:n.*237dup
ENST00000686442.1:n.4142dup (CUL7)
ENST00000687225.1:c.*1878dup (CUL7)	ENSP00000509364.1:n.*1878dup
ENST00000688302.1:n.3864dup (CUL7)
ENST00000689256.1:n.4158dup (CUL7)
ENST00000690231.1:c.3581dup (CUL7)	ENSP00000508461.1:p.Leu1194PhefsTer25
ENST00000265348.9:c.3581dup (CUL7) MANE Select	ENSP00000265348.4:p.Leu1194PhefsTer25
ENST00000673725.1:c.1452dup (CUL7)
ENST00000673753.1:n.4420dup (CUL7)
ENST00000674100.1:c.3677dup (CUL7)	ENSP00000501292.1:p.Leu1226PhefsTer25
ENST00000674112.1:c.2073dup (CUL7)
ENST00000674134.1:c.3677dup (CUL7)	ENSP00000501068.1:p.Leu1226PhefsTer25
ENST00000265348.7:c.3581dup (CUL7)	ENSP00000265348.3:p.Leu1194PhefsTer25
ENST00000467906.5:c.-1003-191dup (KLC4)	ENSP00000418759.1:n.-1003-191dup
ENST00000535468.1:c.3833dup (CUL7)	ENSP00000438788.1:p.Leu1278PhefsTer25
NM_001168370.1:c.3833dup (CUL7)	NP_001161842.1:p.Leu1278PhefsTer25
NM_014780.4:c.3581dup (CUL7)	NP_055595.2:p.Leu1194PhefsTer25
XM_005249503.1:c.3737dup (CUL7)	XP_005249560.1:p.Leu1246PhefsTer25
XM_006715285.1:c.3677dup (CUL7)	XP_006715348.1:p.Leu1226PhefsTer25
XM_011515019.1:c.3833dup (CUL7)	XP_011513321.1:p.Leu1278PhefsTer25
XM_011515020.1:c.3737dup (CUL7)	XP_011513322.1:p.Leu1246PhefsTer25
XM_011515021.1:c.1442dup (CUL7)	XP_011513323.1:p.Leu481PhefsTer25
XM_005249503.3:c.3737dup (CUL7)	XP_005249560.1:p.Leu1246PhefsTer25
XM_006715285.2:c.3677dup (CUL7)	XP_006715348.1:p.Leu1226PhefsTer25
XM_011515019.2:c.3833dup (CUL7)	XP_011513321.1:p.Leu1278PhefsTer25
XM_011515020.2:c.3737dup (CUL7)	XP_011513322.1:p.Leu1246PhefsTer25
XM_017011533.1:c.3860dup (CUL7)	XP_016867022.1:p.Leu1287PhefsTer25
XM_017011534.1:c.3860dup (CUL7)	XP_016867023.1:p.Leu1287PhefsTer25
XM_017011535.1:c.3764dup (CUL7)	XP_016867024.1:p.Leu1255PhefsTer25
XM_017011536.2:c.3704dup (CUL7)	XP_016867025.1:p.Leu1235PhefsTer25
XM_017011537.2:c.3677dup (CUL7)	XP_016867026.1:p.Leu1226PhefsTer25
XM_017011538.2:c.3608dup (CUL7)	XP_016867027.1:p.Leu1203PhefsTer25
XM_017011539.2:c.3581dup (CUL7)	XP_016867028.1:p.Leu1194PhefsTer25
NM_001168370.2:c.3677dup (CUL7)	NP_001161842.2:p.Leu1226PhefsTer25
NM_001374872.1:c.3677dup (CUL7)	NP_001361801.1:p.Leu1226PhefsTer25
NM_001374873.1:c.3581dup (CUL7)	NP_001361802.1:p.Leu1194PhefsTer25
NM_001374874.1:c.3578dup (CUL7)	NP_001361803.1:p.Leu1193PhefsTer25
NM_014780.5:c.3581dup (CUL7) MANE Select	NP_055595.2:p.Leu1194PhefsTer25