Linked Data
ClinVar Variation Id:
182326
dbSNP Id:
rs730881619
ExAC:
13:32972540 C / CATTT
gnomAD v2:
13-32972540-C-CATTT
gnomAD v3:
13-32398403-C-CATTT
gnomAD v4:
13-32398403-C-CATTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398404_32398407dup , CM000675.2:g.32398404_32398407dup | GRCh38 |
| NC_000013.10:g.32972541_32972544dup , CM000675.1:g.32972541_32972544dup | GRCh37 |
| NC_000013.9:g.31870541_31870544dup | NCBI36 |
| NG_012772.3:g.87925_87928dup , LRG_293:g.87925_87928dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.*414_*417dup | ENSP00000434898.2:n.*414_*417dup | |
| ENST00000528762.2:c.*1258_*1261dup | ENSP00000433168.2:n.*1258_*1261dup | |
| ENST00000530893.7:c.9522_9525dup | ENSP00000499438.2:p.Gln3176IlefsTer29 | |
| ENST00000665585.2:c.*1453_*1456dup | ENSP00000499570.2:n.*1453_*1456dup | |
| ENST00000700202.2:c.9840_9843dup | ENSP00000514856.2:p.Gln3282IlefsTer29 | |
| ENST00000700202.1:c.2307_2310dup | ENSP00000514856.1:p.Gln771IlefsTer29 | |
| ENST00000700203.1:n.2018_2021dup | ||
| ENST00000380152.8:c.9891_9894dup MANE Select | ENSP00000369497.3:p.Gln3299IlefsTer29 | |
| ENST00000544455.6:c.9891_9894dup | ENSP00000439902.1:p.Gln3299IlefsTer29 | |
| ENST00000614259.2:c.9899_9902dup | ENSP00000506251.1:n.9899_9902dup | |
| ENST00000680887.1:c.9891_9894dup | ENSP00000505508.1:p.Gln3299IlefsTer29 | |
| ENST00000380152.7:c.9891_9894dup | ENSP00000369497.3:p.Gln3299IlefsTer29 | |
| ENST00000533776.1:n.479_482dup | ||
| ENST00000544455.5:c.9891_9894dup | ENSP00000439902.1:p.Gln3299IlefsTer29 | |
| NM_000059.3:c.9891_9894dup , LRG_293t1:c.9891_9894dup | NP_000050.2:p.Gln3299IlefsTer29 | |
| XM_011535203.1:c.9891_9894dup | XP_011533505.1:p.Gln3299IlefsTer29 | |
| XM_011535204.1:c.9795_9798dup | XP_011533506.1:p.Gln3267IlefsTer29 | |
| NM_000059.4:c.9891_9894dup MANE Select | NP_000050.3:p.Gln3299IlefsTer29 |