Linked Data
dbSNP Id:
rs1038561826
gnomAD v3:
19-7526683-TGGTGGGCGGGCAGGTGCA-T
gnomAD v4:
19-7526683-TGGTGGGCGGGCAGGTGCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7526690_7526707del , CM000681.2:g.7526690_7526707del | GRCh38 |
| NC_000019.9:g.7591576_7591593del , CM000681.1:g.7591576_7591593del | GRCh37 |
| NC_000019.8:g.7497576_7497593del | NCBI36 |
| NG_015806.1:g.9081_9098del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.406-71_406-54del MANE Select | ENSP00000264079.5:n.406-71_406-54del | |
| ENST00000264079.10:c.406-71_406-54del | ENSP00000264079.5:n.406-71_406-54del | |
| ENST00000394321.9:n.486-71_486-54del | ||
| ENST00000596008.1:n.368-71_368-54del | ||
| ENST00000598406.1:n.227-71_227-54del | ||
| ENST00000601003.1:c.406-71_406-54del | ENSP00000469074.1:n.406-71_406-54del | |
| NM_020533.2:c.406-71_406-54del | NP_065394.1:n.406-71_406-54del | |
| NM_020533.3:c.406-71_406-54del MANE Select | NP_065394.1:n.406-71_406-54del |