Linked Data
dbSNP Id:
rs751494565
ExAC:
19:49477973 AG / A
gnomAD v2:
19-49477973-AG-A
gnomAD v4:
19-48974716-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48974722del , CM000681.2:g.48974722del | GRCh38 |
| NC_000019.9:g.49477979del , CM000681.1:g.49477979del | GRCh37 |
| NC_000019.8:g.54169791del | NCBI36 |
| NG_012923.1:g.23637del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323798.8:c.1325del MANE Select | ENSP00000317904.3:p.Pro442LeufsTer16 | |
| ENST00000263276.6:c.1133del | ENSP00000263276.6:p.Pro378LeufsTer16 | |
| ENST00000323798.7:c.1325del | ENSP00000317904.3:p.Pro442LeufsTer16 | |
| ENST00000472004.5:n.80del | ||
| ENST00000496048.1:n.232del | ||
| NM_001161587.1:c.1133del | NP_001155059.1:p.Pro378LeufsTer16 | |
| NM_002103.4:c.1325del | NP_002094.2:p.Pro442LeufsTer16 | |
| NR_027763.1:n.1384del | ||
| NM_002103.5:c.1325del MANE Select | NP_002094.2:p.Pro442LeufsTer16 | |
| NM_001161587.2:c.1133del | NP_001155059.1:p.Pro378LeufsTer16 | |
| NR_027763.2:n.1340del |