Linked Data
ClinVar Variation Id:
597
dbSNP Id:
rs62516096
PubMed:
PMID:1975559
ERepo:
CA229337/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843753_102843755del , CM000674.2:g.102843753_102843755del | GRCh38 |
| NC_000012.11:g.103237531_103237533del , CM000674.1:g.103237531_103237533del | GRCh37 |
| NC_000012.10:g.101761661_101761663del | NCBI36 |
| NG_008690.1:g.78850_78852del | |
| NG_008690.2:g.119658_119660del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1092_1094del MANE Select | ENSP00000448059.1:p.Leu365del | |
| ENST00000307000.7:c.1077_1079del | ENSP00000303500.2:p.Leu360del | |
| ENST00000549247.6:n.851_853del | ||
| ENST00000551114.2:n.754_756del | ||
| ENST00000553106.5:c.1092_1094del | ENSP00000448059.1:p.Leu365del | |
| ENST00000635477.1:c.196_198del | ||
| ENST00000635528.1:n.607_609del | ||
| NM_000277.1:c.1092_1094del | NP_000268.1:p.Leu365del | |
| XM_011538422.1:c.1035_1037del | XP_011536724.1:p.Leu346del | |
| NM_000277.2:c.1092_1094del | NP_000268.1:p.Leu365del | |
| NM_001354304.1:c.1092_1094del | NP_001341233.1:p.Leu365del | |
| NM_000277.3:c.1092_1094del MANE Select | NP_000268.1:p.Leu365del | |
| NM_001354304.2:c.1092_1094del | NP_001341233.1:p.Leu365del |