Linked Data
ClinVar Variation Id:
2353
ClinVar RCV Id:
RCV000002447
RCV000310917
RCV000710335
RCV000984013
RCV000793722
RCV001073308
RCV002482816
dbSNP Id:
rs111033367
gnomAD v2:
1-216363621-CAG-C
gnomAD v3:
1-216190279-CAG-C
gnomAD v4:
1-216190279-CAG-C
ERepo:
CA252228/MONDO:0019501/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216190284_216190285del , CM000663.2:g.216190284_216190285del | GRCh38 |
| NC_000001.10:g.216363626_216363627del , CM000663.1:g.216363626_216363627del | GRCh37 |
| NC_000001.9:g.214430249_214430250del | NCBI36 |
| NG_009497.1:g.238116_238117del | |
| NG_009497.2:g.238168_238169del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.4338_4339del MANE Select | ENSP00000305941.3:p.Cys1447GlnfsTer29 | |
| ENST00000674083.1:c.4338_4339del | ENSP00000501296.1:p.Cys1447GlnfsTer29 | |
| ENST00000307340.7:c.4338_4339del | ENSP00000305941.3:p.Cys1447GlnfsTer29 | |
| ENST00000366942.3:c.4338_4339del | ENSP00000355909.3:p.Cys1447GlnfsTer29 | |
| NM_007123.5:c.4338_4339del | NP_009054.5:p.Cys1447GlnfsTer29 | |
| NM_206933.2:c.4338_4339del | NP_996816.2:p.Cys1447GlnfsTer29 | |
| NM_206933.3:c.4338_4339del | NP_996816.2:p.Cys1447GlnfsTer29 | |
| NM_007123.6:c.4338_4339del | NP_009054.6:p.Cys1447GlnfsTer29 | |
| NM_206933.4:c.4338_4339del MANE Select | NP_996816.3:p.Cys1447GlnfsTer29 |