Linked Data
gnomAD v4:
12-6057934-G-GTCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6057938_6057940dup , CM000674.2:g.6057938_6057940dup | GRCh38 |
| NC_000012.11:g.6167104_6167106dup , CM000674.1:g.6167104_6167106dup | GRCh37 |
| NC_000012.10:g.6037365_6037367dup | NCBI36 |
| NG_009072.1:g.71734_71736dup | |
| NG_009072.2:g.71734_71736dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.1641_1643dup MANE Select | ENSP00000261405.5:p.Glu547_Asp548insGlu | |
| ENST00000261405.9:c.1641_1643dup | ENSP00000261405.5:p.Glu547_Asp548insGlu | |
| ENST00000538635.5:n.420+52578_420+52580dup | ||
| NM_000552.3:c.1641_1643dup | NP_000543.2:p.Glu547_Asp548insGlu | |
| NM_000552.4:c.1641_1643dup | NP_000543.2:p.Glu547_Asp548insGlu | |
| NM_000552.5:c.1641_1643dup MANE Select | NP_000543.3:p.Glu547_Asp548insGlu |