Canonical Allele Identifier: CA2580074605

Gene: CUL7 KLC4

Linked Data

• ClinVar Variation Id: 1705498
• ClinVar RCV Id: RCV002283812

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43048166_43048167insT , CM000668.2:g.43048166_43048167insT	GRCh38
NC_000006.11:g.43015904_43015905insT , CM000668.1:g.43015904_43015905insT	GRCh37
NC_000006.10:g.43123882_43123883insT	NCBI36
NG_016205.1:g.10779_10780insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674112.2:c.2150_2151insA (CUL7)	ENSP00000501166.2:p.Asn719LysfsTer3
ENST00000685042.1:c.2150_2151insA (CUL7)	ENSP00000509871.1:p.Asn719LysfsTer3
ENST00000686442.1:n.2433_2434insA (CUL7)
ENST00000687225.1:c.2246_2247insA (CUL7)	ENSP00000509364.1:p.Asn751LysfsTer3
ENST00000688302.1:n.2433_2434insA (CUL7)
ENST00000689256.1:n.2449_2450insA (CUL7)
ENST00000690231.1:c.2150_2151insA (CUL7)	ENSP00000508461.1:p.Asn719LysfsTer3
ENST00000265348.9:c.2150_2151insA (CUL7) MANE Select	ENSP00000265348.4:p.Asn719LysfsTer3
ENST00000673725.1:c.99_100insA (CUL7)
ENST00000673753.1:n.2484_2485insA (CUL7)
ENST00000674100.1:c.2246_2247insA (CUL7)	ENSP00000501292.1:p.Asn751LysfsTer3
ENST00000674112.1:c.642_643insA (CUL7)
ENST00000674134.1:c.2246_2247insA (CUL7)	ENSP00000501068.1:p.Asn751LysfsTer3
ENST00000265348.7:c.2150_2151insA (CUL7)	ENSP00000265348.3:p.Asn719LysfsTer3
ENST00000467906.5:c.-553+4658_-553+4659insT (KLC4)	ENSP00000418759.1:n.-553+4658_-553+4659insT
ENST00000535468.1:c.2402_2403insA (CUL7)	ENSP00000438788.1:p.Asn803LysfsTer3
NM_001168370.1:c.2402_2403insA (CUL7)	NP_001161842.1:p.Asn803LysfsTer3
NM_014780.4:c.2150_2151insA (CUL7)	NP_055595.2:p.Asn719LysfsTer3
XM_005249503.1:c.2306_2307insA (CUL7)	XP_005249560.1:p.Asn771LysfsTer3
XM_006715285.1:c.2246_2247insA (CUL7)	XP_006715348.1:p.Asn751LysfsTer3
XM_011515019.1:c.2402_2403insA (CUL7)	XP_011513321.1:p.Asn803LysfsTer3
XM_011515020.1:c.2306_2307insA (CUL7)	XP_011513322.1:p.Asn771LysfsTer3
XM_011515021.1:c.-33_-32insA (CUL7)	XP_011513323.1:n.-33_-32insA
XM_005249503.3:c.2306_2307insA (CUL7)	XP_005249560.1:p.Asn771LysfsTer3
XM_006715285.2:c.2246_2247insA (CUL7)	XP_006715348.1:p.Asn751LysfsTer3
XM_011515019.2:c.2402_2403insA (CUL7)	XP_011513321.1:p.Asn803LysfsTer3
XM_011515020.2:c.2306_2307insA (CUL7)	XP_011513322.1:p.Asn771LysfsTer3
XM_017011533.1:c.2429_2430insA (CUL7)	XP_016867022.1:p.Asn812LysfsTer3
XM_017011534.1:c.2429_2430insA (CUL7)	XP_016867023.1:p.Asn812LysfsTer3
XM_017011535.1:c.2333_2334insA (CUL7)	XP_016867024.1:p.Asn780LysfsTer3
XM_017011536.2:c.2273_2274insA (CUL7)	XP_016867025.1:p.Asn760LysfsTer3
XM_017011537.2:c.2246_2247insA (CUL7)	XP_016867026.1:p.Asn751LysfsTer3
XM_017011538.2:c.2177_2178insA (CUL7)	XP_016867027.1:p.Asn728LysfsTer3
XM_017011539.2:c.2150_2151insA (CUL7)	XP_016867028.1:p.Asn719LysfsTer3
XM_017011540.1:c.2429_2430insA (CUL7)	XP_016867029.1:p.Asn812LysfsTer3
NM_001168370.2:c.2246_2247insA (CUL7)	NP_001161842.2:p.Asn751LysfsTer3
NM_001374872.1:c.2246_2247insA (CUL7)	NP_001361801.1:p.Asn751LysfsTer3
NM_001374873.1:c.2150_2151insA (CUL7)	NP_001361802.1:p.Asn719LysfsTer3
NM_001374874.1:c.2150_2151insA (CUL7)	NP_001361803.1:p.Asn719LysfsTer3
NM_014780.5:c.2150_2151insA (CUL7) MANE Select	NP_055595.2:p.Asn719LysfsTer3