Linked Data
ClinVar Variation Id:
48558
dbSNP Id:
rs111033268
gnomAD v2:
1-216219795-ACTGCCTGAATAGAT-A
gnomAD v3:
1-216046453-ACTGCCTGAATAGAT-A
gnomAD v4:
1-216046453-ACTGCCTGAATAGAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216046455_216046468del , CM000663.2:g.216046455_216046468del | GRCh38 |
| NC_000001.10:g.216219797_216219810del , CM000663.1:g.216219797_216219810del | GRCh37 |
| NC_000001.9:g.214286420_214286433del | NCBI36 |
| NG_009497.1:g.381930_381943del | |
| NG_009497.2:g.381982_381995del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307340.8:c.6289_6302del MANE Select | ENSP00000305941.3:p.Ile2097Ter | |
| ENST00000674083.1:c.6289_6302del | ENSP00000501296.1:p.Ile2097Ter | |
| ENST00000307340.7:c.6289_6302del | ENSP00000305941.3:p.Ile2097Ter | |
| NM_206933.2:c.6289_6302del | NP_996816.2:p.Ile2097Ter | |
| NM_206933.3:c.6289_6302del | NP_996816.2:p.Ile2097Ter | |
| NM_206933.4:c.6289_6302del MANE Select | NP_996816.3:p.Ile2097Ter |