Canonical Allele Identifier: CA3813988

Gene: CUL7 KLC4

Linked Data

• dbSNP Id: rs750021925
• ExAC: 6:43015971 TCCA / T
• gnomAD v2: 6-43015971-TCCA-T
• MyVariant Identifiers: chr6:g.43015972_43015974del (hg19) ; chr6:g.43048234_43048236del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43048237_43048239del , CM000668.2:g.43048237_43048239del	GRCh38
NC_000006.11:g.43015975_43015977del , CM000668.1:g.43015975_43015977del	GRCh37
NC_000006.10:g.43123953_43123955del	NCBI36
NG_016205.1:g.10710_10712del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674112.2:c.2081_2083del (CUL7)	ENSP00000501166.2:p.Val694del
ENST00000685042.1:c.2081_2083del (CUL7)	ENSP00000509871.1:p.Val694del
ENST00000686442.1:n.2364_2366del (CUL7)
ENST00000687225.1:c.2177_2179del (CUL7)	ENSP00000509364.1:p.Val726del
ENST00000688302.1:n.2364_2366del (CUL7)
ENST00000689256.1:n.2380_2382del (CUL7)
ENST00000690231.1:c.2081_2083del (CUL7)	ENSP00000508461.1:p.Val694del
ENST00000265348.9:c.2081_2083del (CUL7) MANE Select	ENSP00000265348.4:p.Val694del
ENST00000673725.1:c.30_32del (CUL7)
ENST00000673753.1:n.2415_2417del (CUL7)
ENST00000674100.1:c.2177_2179del (CUL7)	ENSP00000501292.1:p.Val726del
ENST00000674112.1:c.573_575del (CUL7)
ENST00000674134.1:c.2177_2179del (CUL7)	ENSP00000501068.1:p.Val726del
ENST00000265348.7:c.2081_2083del (CUL7)	ENSP00000265348.3:p.Val694del
ENST00000467906.5:c.-553+4729_-553+4731del (KLC4)	ENSP00000418759.1:n.-553+4729_-553+4731del
ENST00000535468.1:c.2333_2335del (CUL7)	ENSP00000438788.1:p.Val778del
NM_001168370.1:c.2333_2335del (CUL7)	NP_001161842.1:p.Val778del
NM_014780.4:c.2081_2083del (CUL7)	NP_055595.2:p.Val694del
XM_005249503.1:c.2237_2239del (CUL7)	XP_005249560.1:p.Val746del
XM_006715285.1:c.2177_2179del (CUL7)	XP_006715348.1:p.Val726del
XM_011515019.1:c.2333_2335del (CUL7)	XP_011513321.1:p.Val778del
XM_011515020.1:c.2237_2239del (CUL7)	XP_011513322.1:p.Val746del
XM_011515021.1:c.-102_-100del (CUL7)	XP_011513323.1:n.-102_-100del
XM_005249503.3:c.2237_2239del (CUL7)	XP_005249560.1:p.Val746del
XM_006715285.2:c.2177_2179del (CUL7)	XP_006715348.1:p.Val726del
XM_011515019.2:c.2333_2335del (CUL7)	XP_011513321.1:p.Val778del
XM_011515020.2:c.2237_2239del (CUL7)	XP_011513322.1:p.Val746del
XM_017011533.1:c.2360_2362del (CUL7)	XP_016867022.1:p.Val787del
XM_017011534.1:c.2360_2362del (CUL7)	XP_016867023.1:p.Val787del
XM_017011535.1:c.2264_2266del (CUL7)	XP_016867024.1:p.Val755del
XM_017011536.2:c.2204_2206del (CUL7)	XP_016867025.1:p.Val735del
XM_017011537.2:c.2177_2179del (CUL7)	XP_016867026.1:p.Val726del
XM_017011538.2:c.2108_2110del (CUL7)	XP_016867027.1:p.Val703del
XM_017011539.2:c.2081_2083del (CUL7)	XP_016867028.1:p.Val694del
XM_017011540.1:c.2360_2362del (CUL7)	XP_016867029.1:p.Val787del
NM_001168370.2:c.2177_2179del (CUL7)	NP_001161842.2:p.Val726del
NM_001374872.1:c.2177_2179del (CUL7)	NP_001361801.1:p.Val726del
NM_001374873.1:c.2081_2083del (CUL7)	NP_001361802.1:p.Val694del
NM_001374874.1:c.2081_2083del (CUL7)	NP_001361803.1:p.Val694del
NM_014780.5:c.2081_2083del (CUL7) MANE Select	NP_055595.2:p.Val694del