Linked Data
ClinVar Variation Id:
1454323
dbSNP Id:
rs121918844
gnomAD v2:
1-68910347-GA-G
gnomAD v3:
1-68444664-GA-G
gnomAD v4:
1-68444664-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68444671del , CM000663.2:g.68444671del | GRCh38 |
| NC_000001.10:g.68910354del , CM000663.1:g.68910354del | GRCh37 |
| NC_000001.9:g.68682942del | NCBI36 |
| NG_008472.1:g.10295del | |
| NG_008472.2:g.10295del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262340.6:c.361del MANE Select | ENSP00000262340.5:p.Ser121LeufsTer6 | |
| ENST00000262340.5:c.361del | ENSP00000262340.5:p.Ser121LeufsTer6 | |
| NM_000329.2:c.361del | NP_000320.1:p.Ser121LeufsTer6 | |
| XM_017002027.1:c.85del | XP_016857516.1:p.Ser29LeufsTer6 | |
| NM_000329.3:c.361del MANE Select | NP_000320.1:p.Ser121LeufsTer6 |