Linked Data
gnomAD v4:
1-94001801-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001804dup , CM000663.2:g.94001804dup | GRCh38 |
| NC_000001.10:g.94467360dup , CM000663.1:g.94467360dup | GRCh37 |
| NC_000001.9:g.94239948dup | NCBI36 |
| NG_009073.1:g.124348dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.6282+56dup MANE Select | ENSP00000359245.3:n.6282+56dup | |
| ENST00000370225.3:c.6282+56dup | ENSP00000359245.3:n.6282+56dup | |
| ENST00000465352.1:n.754dup | ||
| ENST00000536513.5:c.2658+56dup | ENSP00000439707.2:n.2658+56dup | |
| NM_000350.2:c.6282+56dup | NP_000341.2:n.6282+56dup | |
| NM_000350.3:c.6282+56dup MANE Select | NP_000341.2:n.6282+56dup |