Linked Data
dbSNP Id:
rs769861583
ExAC:
13:48619835 AC / A
gnomAD v2:
13-48619835-AC-A
gnomAD v4:
13-48045699-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045701del , CM000675.2:g.48045701del | GRCh38 |
| NC_000013.10:g.48619837del , CM000675.1:g.48619837del | GRCh37 |
| NC_000013.9:g.47517838del | NCBI36 |
| NG_047021.1:g.13135del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.397del MANE Select | ENSP00000258662.1:p.Gln133SerfsTer9 | |
| ENST00000258662.2:c.397del | ENSP00000258662.1:p.Gln133SerfsTer9 | |
| NM_018283.2:c.397del | NP_060753.1:p.Gln133SerfsTer9 | |
| NM_018283.3:c.397del | NP_060753.1:p.Gln133SerfsTer9 | |
| NR_136687.1:n.577del | ||
| NR_136688.1:n.577del | ||
| NM_018283.4:c.397del MANE Select | NP_060753.1:p.Gln133SerfsTer9 | |
| NR_136687.2:n.418del | ||
| NR_136688.2:n.418del |