Canonical Allele Identifier: CA16621906

Linked Data

ClinVar Variation Id: 425545
ClinVar RCV Id: RCV000487737
dbSNP Id: rs1064792895

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43045323_43045324del , CM000668.2:g.43045323_43045324del GRCh38
NC_000006.11:g.43013061_43013062del , CM000668.1:g.43013061_43013062del GRCh37
NC_000006.10:g.43121039_43121040del NCBI36
NG_016205.1:g.13624_13625del

Transcript Alleles

HGVS Amino-acid change
ENST00000478630.2:n.1014_1015del (CUL7)
ENST00000674112.2:c.2943_2944del (CUL7) ENSP00000501166.2:p.Cys982SerfsTer?
ENST00000685042.1:c.2943_2944del (CUL7) ENSP00000509871.1:p.Cys982SerfsTer?
ENST00000686442.1:n.3504_3505del (CUL7)
ENST00000687225.1:c.*1240_*1241del (CUL7) ENSP00000509364.1:n.*1240_*1241del
ENST00000688302.1:n.3226_3227del (CUL7)
ENST00000689256.1:n.3520_3521del (CUL7)
ENST00000690231.1:c.2943_2944del (CUL7) ENSP00000508461.1:p.Cys982SerfsTer?
ENST00000265348.9:c.2943_2944del (CUL7) MANE Select ENSP00000265348.4:p.Cys982SerfsTer?
ENST00000673725.1:c.892_893del (CUL7)
ENST00000673753.1:n.3782_3783del (CUL7)
ENST00000674100.1:c.3039_3040del (CUL7) ENSP00000501292.1:p.Cys1014SerfsTer?
ENST00000674112.1:c.1435_1436del (CUL7)
ENST00000674134.1:c.3039_3040del (CUL7) ENSP00000501068.1:p.Cys1014SerfsTer?
ENST00000265348.7:c.2943_2944del (CUL7) ENSP00000265348.3:p.Cys982SerfsTer?
ENST00000467906.5:c.-553+1815_-553+1816del (KLC4) ENSP00000418759.1:n.-553+1815_-553+1816de...
ENST00000535468.1:c.3195_3196del (CUL7) ENSP00000438788.1:p.Cys1066SerfsTer?
NM_001168370.1:c.3195_3196del (CUL7) NP_001161842.1:p.Cys1066SerfsTer?
NM_014780.4:c.2943_2944del (CUL7) NP_055595.2:p.Cys982SerfsTer?
XM_005249503.1:c.3099_3100del (CUL7) XP_005249560.1:p.Cys1034SerfsTer?
XM_006715285.1:c.3039_3040del (CUL7) XP_006715348.1:p.Cys1014SerfsTer?
XM_011515019.1:c.3195_3196del (CUL7) XP_011513321.1:p.Cys1066SerfsTer?
XM_011515020.1:c.3099_3100del (CUL7) XP_011513322.1:p.Cys1034SerfsTer?
XM_011515021.1:c.804_805del (CUL7) XP_011513323.1:p.Cys269SerfsTer?
XM_005249503.3:c.3099_3100del (CUL7) XP_005249560.1:p.Cys1034SerfsTer?
XM_006715285.2:c.3039_3040del (CUL7) XP_006715348.1:p.Cys1014SerfsTer?
XM_011515019.2:c.3195_3196del (CUL7) XP_011513321.1:p.Cys1066SerfsTer?
XM_011515020.2:c.3099_3100del (CUL7) XP_011513322.1:p.Cys1034SerfsTer?
XM_017011533.1:c.3222_3223del (CUL7) XP_016867022.1:p.Cys1075SerfsTer?
XM_017011534.1:c.3222_3223del (CUL7) XP_016867023.1:p.Cys1075SerfsTer?
XM_017011535.1:c.3126_3127del (CUL7) XP_016867024.1:p.Cys1043SerfsTer?
XM_017011536.2:c.3066_3067del (CUL7) XP_016867025.1:p.Cys1023SerfsTer?
XM_017011537.2:c.3039_3040del (CUL7) XP_016867026.1:p.Cys1014SerfsTer?
XM_017011538.2:c.2970_2971del (CUL7) XP_016867027.1:p.Cys991SerfsTer?
XM_017011539.2:c.2943_2944del (CUL7) XP_016867028.1:p.Cys982SerfsTer?
NM_001168370.2:c.3039_3040del (CUL7) NP_001161842.2:p.Cys1014SerfsTer?
NM_001374872.1:c.3039_3040del (CUL7) NP_001361801.1:p.Cys1014SerfsTer?
NM_001374873.1:c.2943_2944del (CUL7) NP_001361802.1:p.Cys982SerfsTer?
NM_001374874.1:c.2943_2944del (CUL7) NP_001361803.1:p.Cys982SerfsTer?
NM_014780.5:c.2943_2944del (CUL7) MANE Select NP_055595.2:p.Cys982SerfsTer?