Linked Data
gnomAD v3:
22-43928725-C-CTTTTTTTTTTTTTTTTTGGTG
gnomAD v4:
22-43928725-C-CTTTTTTTTTTTTTTTTTGGTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43928725_43928726insTTTTTTTTTTTTTTTTTGGTG , CM000684.2:g.43928725_43928726insTTTTTTTTTTTTTTTTTGGTG | GRCh38 |
| NC_000022.10:g.44324605_44324606insTTTTTTTTTTTTTTTTTGGTG , CM000684.1:g.44324605_44324606insTTTTTTTTTTTTTTTTTGGTG | GRCh37 |
| NC_000022.9:g.42655938_42655939insTTTTTTTTTTTTTTTTTGGTG | NCBI36 |
| NG_008631.1:g.9987_9988insTTTTTTTTTTTTTTTTTGGTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.421-99_421-98insTTTTTTTTTTTTTTTTTGGTG MANE Select | ENSP00000216180.3:n.421-99_421-98insTTTTTTTTTTTTTTTTTGGTG | |
| ENST00000216180.7:c.421-99_421-98insTTTTTTTTTTTTTTTTTGGTG | ENSP00000216180.3:n.421-99_421-98insTTTTTTTTTTTTTTTTTGGTG | |
| ENST00000406117.6:c.*53-99_*53-98insTTTTTTTTTTTTTTTTTGGTG | ENSP00000384668.2:n.*53-99_*53-98insTTTTTTTTTTTTTTTTTGGTG | |
| ENST00000423180.2:c.409-99_409-98insTTTTTTTTTTTTTTTTTGGTG | ENSP00000397987.2:n.409-99_409-98insTTTTTTTTTTTTTTTTTGGTG | |
| ENST00000478713.1:n.455-99_455-98insTTTTTTTTTTTTTTTTTGGTG | ||
| NM_025225.2:c.421-99_421-98insTTTTTTTTTTTTTTTTTGGTG | NP_079501.2:n.421-99_421-98insTTTTTTTTTTTTTTTTTGGTG | |
| NM_025225.3:c.421-99_421-98insTTTTTTTTTTTTTTTTTGGTG MANE Select | NP_079501.2:n.421-99_421-98insTTTTTTTTTTTTTTTTTGGTG |