Linked Data
ClinVar Variation Id:
1983329
ClinVar RCV Id:
RCV002795255
gnomAD v4:
10-86917342-TTCAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86917346_86917349del , CM000672.2:g.86917346_86917349del | GRCh38 |
| NC_000010.10:g.88677103_88677106del , CM000672.1:g.88677103_88677106del | GRCh37 |
| NC_000010.9:g.88667083_88667086del | NCBI36 |
| NG_009362.1:g.165708_165711del , LRG_298:g.165708_165711del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480152.3:c.868+20_868+23del | ENSP00000483569.2:n.868+20_868+23del | |
| ENST00000635816.2:c.868+20_868+23del | ENSP00000489707.1:n.868+20_868+23del | |
| ENST00000636056.2:c.868+20_868+23del | ENSP00000490273.1:n.868+20_868+23del | |
| ENST00000372037.8:c.868+20_868+23del MANE Select | ENSP00000361107.2:n.868+20_868+23del | |
| ENST00000635816.1:c.868+20_868+23del | ENSP00000489707.1:n.868+20_868+23del | |
| ENST00000636056.1:c.868+20_868+23del | ENSP00000490273.1:n.868+20_868+23del | |
| ENST00000638429.1:c.868+20_868+23del | ENSP00000492290.1:n.868+20_868+23del | |
| ENST00000372037.7:c.868+20_868+23del | ENSP00000361107.1:n.868+20_868+23del | |
| NM_004329.2:c.868+20_868+23del , LRG_298t1:c.868+20_868+23del | NP_004320.2:n.868+20_868+23del | |
| XM_011540103.1:c.868+20_868+23del | XP_011538405.1:n.868+20_868+23del | |
| XM_011540104.1:c.868+20_868+23del | XP_011538406.1:n.868+20_868+23del | |
| XM_011540103.2:c.868+20_868+23del | XP_011538405.1:n.868+20_868+23del | |
| XM_011540104.2:c.868+20_868+23del | XP_011538406.1:n.868+20_868+23del | |
| NM_004329.3:c.868+20_868+23del MANE Select | NP_004320.2:n.868+20_868+23del |