Linked Data
gnomAD v4:
10-114044227-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044228del , CM000672.2:g.114044228del | GRCh38 |
| NC_000010.10:g.115803987del , CM000672.1:g.115803987del | GRCh37 |
| NC_000010.9:g.115793977del | NCBI36 |
| NG_012187.1:g.5182del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.96del MANE Select | ENSP00000358301.2:p.Leu33TrpfsTer? | |
| ENST00000369295.3:c.96del | ENSP00000358301.2:p.Leu33TrpfsTer? | |
| NM_000684.2:c.96del | NP_000675.1:p.Leu33TrpfsTer? | |
| NM_000684.3:c.96del MANE Select | NP_000675.1:p.Leu33TrpfsTer? |