Linked Data
ClinVar Variation Id:
370416
ClinVar RCV Id:
RCV000410105
dbSNP Id:
rs1057516469
gnomAD v2:
14-88431869-TC-T
gnomAD v4:
14-87965525-TC-T
PubMed:
PMID:9338580
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87965526del , CM000676.2:g.87965526del | GRCh38 |
| NC_000014.8:g.88431870del , CM000676.1:g.88431870del | GRCh37 |
| NC_000014.7:g.87501623del | NCBI36 |
| NG_011853.2:g.33038del | |
| NG_011853.3:g.33038del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261304.7:c.1012del MANE Select | ENSP00000261304.2:p.Glu338AsnfsTer21 | |
| ENST00000261304.6:c.1012del | ENSP00000261304.2:p.Glu338AsnfsTer21 | |
| ENST00000393568.8:c.943del | ENSP00000377198.4:p.Glu315AsnfsTer21 | |
| ENST00000393569.6:c.934del | ENSP00000377199.2:p.Glu312AsnfsTer21 | |
| ENST00000474294.6:n.1002del | ||
| ENST00000544807.6:c.844del | ENSP00000437513.2:p.Glu282AsnfsTer21 | |
| ENST00000555000.5:c.379del | ENSP00000450472.1:p.Glu127AsnfsTer21 | |
| ENST00000557316.5:c.*410del | ENSP00000452314.1:n.*410del | |
| ENST00000557520.1:n.98del | ||
| ENST00000622264.4:c.1002del | ||
| NM_000153.3:c.1012del | NP_000144.2:p.Glu338AsnfsTer21 | |
| NM_001201401.1:c.943del | NP_001188330.1:p.Glu315AsnfsTer21 | |
| NM_001201402.1:c.934del | NP_001188331.1:p.Glu312AsnfsTer21 | |
| XM_011536618.1:c.844del | XP_011534920.1:p.Glu282AsnfsTer21 | |
| XM_011536618.2:c.844del | XP_011534920.1:p.Glu282AsnfsTer21 | |
| NM_000153.4:c.1012del MANE Select | NP_000144.2:p.Glu338AsnfsTer21 | |
| NM_001201401.2:c.943del | NP_001188330.1:p.Glu315AsnfsTer21 | |
| NM_001201402.2:c.934del | NP_001188331.1:p.Glu312AsnfsTer21 |