Linked Data
ClinVar Variation Id:
9996
ClinVar RCV Id:
RCV003151717
dbSNP Id:
rs879253715
PubMed:
PMID:9279760
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153866658_153866659del , CM000685.2:g.153866658_153866659del | GRCh38 |
| NC_000023.10:g.153132113_153132114del , CM000685.1:g.153132113_153132114del | GRCh37 |
| NC_000023.9:g.152785307_152785308del | NCBI36 |
| NG_009645.3:g.47565_47566del | |
| NG_009645.4:g.24515_24516del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370060.7:c.2421_2422del MANE Select | ENSP00000359077.1:p.Gly808ArgfsTer9 | |
| ENST00000361699.8:c.2421_2422del | ENSP00000355380.4:p.Gly808ArgfsTer9 | |
| ENST00000361981.7:c.2406_2407del | ENSP00000354712.3:p.Gly803ArgfsTer9 | |
| ENST00000370055.5:c.2406_2407del | ENSP00000359072.1:p.Gly803ArgfsTer9 | |
| ENST00000370060.5:c.2421_2422del | ENSP00000359077.1:p.Gly808ArgfsTer9 | |
| NM_000425.4:c.2421_2422del | NP_000416.1:p.Gly808ArgfsTer9 | |
| NM_001143963.2:c.2406_2407del | NP_001137435.1:p.Gly803ArgfsTer9 | |
| NM_001278116.1:c.2421_2422del | NP_001265045.1:p.Gly808ArgfsTer9 | |
| NM_024003.3:c.2421_2422del | NP_076493.1:p.Gly808ArgfsTer9 | |
| NM_000425.5:c.2421_2422del | NP_000416.1:p.Gly808ArgfsTer9 | |
| NM_001278116.2:c.2421_2422del MANE Select | NP_001265045.1:p.Gly808ArgfsTer9 |