Linked Data
ClinVar Variation Id:
370982
ClinVar RCV Id:
RCV000410522
dbSNP Id:
rs1057516914
PubMed:
PMID:25085675
ERepo:
CA16020850/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852912del , CM000674.2:g.102852912del | GRCh38 |
| NC_000012.11:g.103246690del , CM000674.1:g.103246690del | GRCh37 |
| NC_000012.10:g.101770820del | NCBI36 |
| NG_008690.1:g.69691del | |
| NG_008690.2:g.110499del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.745del MANE Select | ENSP00000448059.1:p.Leu249PhefsTer? | |
| ENST00000307000.7:c.730del | ENSP00000303500.2:p.Leu244PhefsTer? | |
| ENST00000549247.6:n.504del | ||
| ENST00000553106.5:c.745del | ENSP00000448059.1:p.Leu249PhefsTer? | |
| NM_000277.1:c.745del | NP_000268.1:p.Leu249PhefsTer? | |
| XM_011538422.1:c.745del | XP_011536724.1:p.Leu249PhefsTer? | |
| NM_000277.2:c.745del | NP_000268.1:p.Leu249PhefsTer? | |
| NM_001354304.1:c.745del | NP_001341233.1:p.Leu249PhefsTer? | |
| NM_000277.3:c.745del MANE Select | NP_000268.1:p.Leu249PhefsTer? | |
| NM_001354304.2:c.745del | NP_001341233.1:p.Leu249PhefsTer? |