Linked Data
dbSNP Id:
rs777666819
ExAC:
18:13884859 GTGA / G
gnomAD v2:
18-13884859-GTGA-G
gnomAD v4:
18-13884860-GTGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13884863_13884865del , CM000680.2:g.13884863_13884865del | GRCh38 |
| NC_000018.9:g.13884862_13884864del , CM000680.1:g.13884862_13884864del | GRCh37 |
| NC_000018.8:g.13874862_13874864del | NCBI36 |
| NG_011819.1:g.35674_35676del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327606.4:c.656_658del MANE Select | ENSP00000333821.2:p.Ile219del | |
| ENST00000327606.3:c.656_658del | ENSP00000333821.2:p.Ile219del | |
| NM_000529.2:c.656_658del MANE Select | NP_000520.1:p.Ile219del | |
| NM_001291911.1:c.656_658del | NP_001278840.1:p.Ile219del | |
| XM_017025781.1:c.656_658del | XP_016881270.1:p.Ile219del |