Linked Data
ClinVar Variation Id:
551736
dbSNP Id:
rs1553252052
MyVariant Identifiers:
chr1:g.215671207del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215671209del , CM000663.2:g.215671209del | GRCh38 |
| NC_000001.10:g.215844551del , CM000663.1:g.215844551del | GRCh37 |
| NC_000001.9:g.213911174del | NCBI36 |
| NG_009497.1:g.757190del | |
| NG_009497.2:g.757242del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.13898del MANE Select | ENSP00000305941.3:p.Leu4633Ter | |
| ENST00000674083.1:c.13898del | ENSP00000501296.1:p.Leu4633Ter | |
| ENST00000307340.7:c.13898del | ENSP00000305941.3:p.Leu4633Ter | |
| NM_206933.2:c.13898del | NP_996816.2:p.Leu4633Ter | |
| NM_206933.3:c.13898del | NP_996816.2:p.Leu4633Ter | |
| NM_206933.4:c.13898del MANE Select | NP_996816.3:p.Leu4633Ter |