Linked Data
ClinVar Variation Id:
652292
ClinVar RCV Id:
RCV000807823
dbSNP Id:
rs1583815667
gnomAD v4:
6-129465169-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129465170del , CM000668.2:g.129465170del | GRCh38 |
| NC_000006.11:g.129786315del , CM000668.1:g.129786315del | GRCh37 |
| NC_000006.10:g.129828008del | NCBI36 |
| NG_008678.1:g.587030del , LRG_409:g.587030del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617695.5:c.7181del | ENSP00000481744.2:p.Thr2394MetfsTer5 | |
| ENST00000618192.5:c.7445del | ENSP00000480802.2:p.Thr2482MetfsTer5 | |
| ENST00000684985.1:n.812del | ||
| ENST00000688150.1:n.520del | ||
| ENST00000421865.3:c.7181del MANE Select | ENSP00000400365.2:p.Thr2394MetfsTer5 | |
| ENST00000421865.2:c.7181del | ENSP00000400365.2:p.Thr2394MetfsTer5 | |
| ENST00000617695.4:c.7181del | ENSP00000481744.1:p.Thr2394MetfsTer5 | |
| ENST00000618192.4:c.7178del | ENSP00000480802.1:p.Thr2393MetfsTer5 | |
| NM_000426.3:c.7181del , LRG_409t1:c.7181del | NP_000417.2:p.Thr2394MetfsTer5 | |
| NM_001079823.1:c.7181del | NP_001073291.1:p.Thr2394MetfsTer5 | |
| XM_005266981.2:c.7445del | XP_005267038.1:p.Thr2482MetfsTer5 | |
| XM_005266982.2:c.7445del | XP_005267039.1:p.Thr2482MetfsTer5 | |
| XM_011535820.1:c.7439del | XP_011534122.1:p.Thr2480MetfsTer5 | |
| XM_005266981.3:c.7445del | XP_005267038.1:p.Thr2482MetfsTer5 | |
| XM_005266982.3:c.7445del | XP_005267039.1:p.Thr2482MetfsTer5 | |
| XM_011535820.2:c.7439del | XP_011534122.1:p.Thr2480MetfsTer5 | |
| XM_017010851.2:c.7451del | XP_016866340.1:p.Thr2484MetfsTer5 | |
| XM_017010852.1:c.5576del | XP_016866341.1:p.Thr1859MetfsTer5 | |
| NM_000426.4:c.7181del MANE Select | NP_000417.3:p.Thr2394MetfsTer5 | |
| NM_001079823.2:c.7181del | NP_001073291.2:p.Thr2394MetfsTer5 |