Linked Data
ClinVar Variation Id:
2970169
ClinVar RCV Id:
RCV003829823
dbSNP Id:
rs779655156
ExAC:
16:89985823 TTGG / T
gnomAD v2:
16-89985823-TTGG-T
gnomAD v3:
16-89919415-TTGG-T
gnomAD v4:
16-89919415-TTGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919419_89919421del , CM000678.2:g.89919419_89919421del | GRCh38 |
| NC_000016.9:g.89985827_89985829del , CM000678.1:g.89985827_89985829del | GRCh37 |
| NC_000016.8:g.88513328_88513330del | NCBI36 |
| NG_012026.1:g.6541_6543del | |
| NG_027810.1:g.2411_2413del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000555147.2:c.161_163del MANE Select | ENSP00000451605.1:p.Val54del | |
| ENST00000639847.1:c.161_163del | ENSP00000492011.1:p.Val54del | |
| ENST00000555147.1:c.161_163del | ENSP00000451605.1:p.Val54del | |
| ENST00000555427.1:c.161_163del | ENSP00000451760.1:p.Val54del | |
| ENST00000556922.1:c.161_163del | ENSP00000451560.1:p.Val54del | |
| NM_002386.3:c.161_163del | NP_002377.4:p.Val54del | |
| NM_002386.4:c.161_163del MANE Select | NP_002377.4:p.Val54del |