Linked Data
ClinVar Variation Id:
2682160
ClinVar RCV Id:
RCV003479533
ERepo:
CA16020760/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894810_102894813del , CM000674.2:g.102894810_102894813del | GRCh38 |
| NC_000012.11:g.103288588_103288591del , CM000674.1:g.103288588_103288591del | GRCh37 |
| NC_000012.10:g.101812718_101812721del | NCBI36 |
| NG_008690.1:g.27793_27796del | |
| NG_008690.2:g.68601_68604del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.277_280del MANE Select | ENSP00000448059.1:p.Asn93SerfsTer5 | |
| ENST00000307000.7:c.262_265del | ENSP00000303500.2:p.Asn88SerfsTer5 | |
| ENST00000546844.1:c.277_280del | ENSP00000446658.1:p.Asn93SerfsTer5 | |
| ENST00000548677.2:n.364_367del | ||
| ENST00000548928.1:n.199_202del | ||
| ENST00000549111.5:n.373_376del | ||
| ENST00000550978.6:c.261_264del | ||
| ENST00000551337.5:c.277_280del | ENSP00000447620.1:p.Asn93SerfsTer5 | |
| ENST00000551988.5:n.366_369del | ||
| ENST00000553106.5:c.277_280del | ENSP00000448059.1:p.Asn93SerfsTer5 | |
| NM_000277.1:c.277_280del | NP_000268.1:p.Asn93SerfsTer5 | |
| XM_011538422.1:c.277_280del | XP_011536724.1:p.Asn93SerfsTer5 | |
| NM_000277.2:c.277_280del | NP_000268.1:p.Asn93SerfsTer5 | |
| NM_001354304.1:c.277_280del | NP_001341233.1:p.Asn93SerfsTer5 | |
| XM_017019370.2:c.277_280del | XP_016874859.1:p.Asn93SerfsTer5 | |
| NM_000277.3:c.277_280del MANE Select | NP_000268.1:p.Asn93SerfsTer5 | |
| NM_001354304.2:c.277_280del | NP_001341233.1:p.Asn93SerfsTer5 |