Linked Data
ClinVar Variation Id:
182329
dbSNP Id:
rs730881621
gnomAD v2:
13-32972643-TTC-T
gnomAD v3:
13-32398506-TTC-T
gnomAD v4:
13-32398506-TTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398510_32398511del , CM000675.2:g.32398510_32398511del | GRCh38 |
| NC_000013.10:g.32972647_32972648del , CM000675.1:g.32972647_32972648del | GRCh37 |
| NC_000013.9:g.31870647_31870648del | NCBI36 |
| NG_012772.3:g.88031_88032del , LRG_293:g.88031_88032del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*520_*521del | ENSP00000434898.2:n.*520_*521del | |
| ENST00000528762.2:c.*1364_*1365del | ENSP00000433168.2:n.*1364_*1365del | |
| ENST00000530893.7:c.9628_9629del | ENSP00000499438.2:p.Leu3210PhefsTer4 | |
| ENST00000665585.2:c.*1559_*1560del | ENSP00000499570.2:n.*1559_*1560del | |
| ENST00000700202.2:c.9946_9947del | ENSP00000514856.2:p.Leu3316PhefsTer4 | |
| ENST00000700202.1:c.2413_2414del | ENSP00000514856.1:p.Leu805PhefsTer4 | |
| ENST00000700203.1:n.2124_2125del | ||
| ENST00000380152.8:c.9997_9998del MANE Select | ENSP00000369497.3:p.Leu3333PhefsTer4 | |
| ENST00000544455.6:c.9997_9998del | ENSP00000439902.1:p.Leu3333PhefsTer4 | |
| ENST00000614259.2:c.10005_10006del | ENSP00000506251.1:n.10005_10006del | |
| ENST00000680887.1:c.9997_9998del | ENSP00000505508.1:p.Leu3333PhefsTer4 | |
| ENST00000380152.7:c.9997_9998del | ENSP00000369497.3:p.Leu3333PhefsTer4 | |
| ENST00000544455.5:c.9997_9998del | ENSP00000439902.1:p.Leu3333PhefsTer4 | |
| NM_000059.3:c.9997_9998del , LRG_293t1:c.9997_9998del | NP_000050.2:p.Leu3333PhefsTer4 | |
| XM_011535203.1:c.9997_9998del | XP_011533505.1:p.Leu3333PhefsTer4 | |
| XM_011535204.1:c.9901_9902del | XP_011533506.1:p.Leu3301PhefsTer4 | |
| NM_000059.4:c.9997_9998del MANE Select | NP_000050.3:p.Leu3333PhefsTer4 |