Linked Data
ClinVar Variation Id:
2032572
ClinVar RCV Id:
RCV002877090
dbSNP Id:
rs758788078
ExAC:
1:215990352 GA / G
gnomAD v2:
1-215990352-GA-G
gnomAD v3:
1-215817010-GA-G
gnomAD v4:
1-215817010-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215817012del , CM000663.2:g.215817012del | GRCh38 |
| NC_000001.10:g.215990354del , CM000663.1:g.215990354del | GRCh37 |
| NC_000001.9:g.214056977del | NCBI36 |
| NG_009497.1:g.611386del | |
| NG_009497.2:g.611438del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.9556del MANE Select | ENSP00000305941.3:p.Ser3186LeufsTer? | |
| ENST00000674083.1:c.9556del | ENSP00000501296.1:p.Ser3186LeufsTer? | |
| ENST00000307340.7:c.9556del | ENSP00000305941.3:p.Ser3186LeufsTer? | |
| NM_206933.2:c.9556del | NP_996816.2:p.Ser3186LeufsTer? | |
| NM_206933.3:c.9556del | NP_996816.2:p.Ser3186LeufsTer? | |
| NM_206933.4:c.9556del MANE Select | NP_996816.3:p.Ser3186LeufsTer? |