Linked Data
dbSNP Id:
rs745673881
ExAC:
22:18561319 GC / G
gnomAD v2:
22-18561319-GC-G
gnomAD v4:
22-18078553-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18078554del , CM000684.2:g.18078554del | GRCh38 |
| NC_000022.10:g.18561320del , CM000684.1:g.18561320del | GRCh37 |
| NC_000022.9:g.16941320del | NCBI36 |
| NG_008339.1:g.5635del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399744.8:c.178del MANE Select | ENSP00000382648.4:p.Arg60GlyfsTer22 | |
| ENST00000474897.6:c.178del | ENSP00000434235.2:p.Arg60GlyfsTer22 | |
| ENST00000329627.11:c.178del | ENSP00000331106.5:p.Arg60GlyfsTer22 | |
| ENST00000399744.7:c.178del | ENSP00000382648.3:p.Arg60GlyfsTer22 | |
| ENST00000428061.2:c.178del | ENSP00000412441.2:p.Arg60GlyfsTer22 | |
| ENST00000474897.5:c.178del | ENSP00000434235.1:p.Arg60GlyfsTer22 | |
| ENST00000610387.4:c.178del | ENSP00000482091.1:p.Arg60GlyfsTer22 | |
| NM_001127649.2:c.178del | NP_001121121.1:p.Arg60GlyfsTer22 | |
| NM_001199319.1:c.178del | NP_001186248.1:p.Arg60GlyfsTer22 | |
| NM_017929.5:c.178del | NP_060399.1:p.Arg60GlyfsTer22 | |
| NM_001127649.3:c.178del MANE Select | NP_001121121.1:p.Arg60GlyfsTer22 | |
| NM_001199319.2:c.178del | NP_001186248.1:p.Arg60GlyfsTer22 | |
| NM_017929.6:c.178del | NP_060399.1:p.Arg60GlyfsTer22 |