Linked Data
dbSNP Id:
rs1485402120
gnomAD v3:
21-44456819-CCCGAGGACAT-C
gnomAD v4:
21-44456819-CCCGAGGACAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44456822_44456831del , CM000683.2:g.44456822_44456831del | GRCh38 |
| NC_000021.8:g.45876705_45876714del , CM000683.1:g.45876705_45876714del | GRCh37 |
| NC_000021.7:g.44701133_44701142del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291592.6:c.178_187del MANE Select | ENSP00000291592.4:p.Glu60ArgfsTer7 | |
| ENST00000291592.5:c.178_187del | ENSP00000291592.4:p.Glu60ArgfsTer7 | |
| NM_030891.4:c.178_187del | NP_112153.1:p.Glu60ArgfsTer7 | |
| NM_030891.5:c.178_187del | NP_112153.1:p.Glu60ArgfsTer7 | |
| NM_030891.6:c.178_187del MANE Select | NP_112153.1:p.Glu60ArgfsTer7 |