Linked Data
gnomAD v4:
5-96393210-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96393211del , CM000667.2:g.96393211del | GRCh38 |
| NC_000005.9:g.95728915del , CM000667.1:g.95728915del | GRCh37 |
| NC_000005.8:g.95754671del | NCBI36 |
| NG_021161.1:g.45071del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.2052del MANE Select | ENSP00000308024.2:p.Pro685GlnfsTer23 | |
| ENST00000311106.7:c.2052del | ENSP00000308024.2:p.Pro685GlnfsTer23 | |
| ENST00000508626.5:c.1911del | ENSP00000421600.1:p.Pro638GlnfsTer23 | |
| ENST00000513085.1:n.1195del | ||
| NM_000439.4:c.2052del | NP_000430.3:p.Pro685GlnfsTer23 | |
| NM_001177875.1:c.1911del | NP_001171346.1:p.Pro638GlnfsTer23 | |
| NR_130776.1:n.354+13559del | ||
| NM_000439.5:c.2052del MANE Select | NP_000430.3:p.Pro685GlnfsTer23 | |
| NM_001177875.2:c.1911del | NP_001171346.1:p.Pro638GlnfsTer23 |