Linked Data
ClinVar Variation Id:
16495
ClinVar RCV Id:
RCV000017959
dbSNP Id:
rs80358236
PubMed:
PMID:8787672
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172665643_172665726del , CM000663.2:g.172665643_172665726del | GRCh38 |
| NC_000001.10:g.172634783_172634866del , CM000663.1:g.172634783_172634866del | GRCh37 |
| NC_000001.9:g.170901406_170901489del | NCBI36 |
| NG_007269.1:g.11599_11682del , LRG_58:g.11599_11682del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367721.3:c.473_556del MANE Select | ENSP00000356694.2:p.Met158_Glu185del | |
| ENST00000340030.4:c.*43_*126del | ENSP00000344739.3:n.*43_*126del | |
| ENST00000367721.2:c.473_556del | ENSP00000356694.2:p.Met158_Glu185del | |
| NM_000639.2:c.473_556del | NP_000630.1:p.Met158_Glu185del | |
| NM_001302746.1:c.*43_*126del | NP_001289675.1:n.*43_*126del | |
| NM_000639.3:c.473_556del MANE Select | NP_000630.1:p.Met158_Glu185del | |
| NM_001302746.2:c.*43_*126del | NP_001289675.1:n.*43_*126del |