Linked Data
ClinVar Variation Id:
9949
ClinVar RCV Id:
RCV000010627
dbSNP Id:
rs431905502
PubMed:
PMID:8673469
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78118103_78118105del , CM000685.2:g.78118103_78118105del | GRCh38 |
| NC_000023.10:g.77373600_77373602del , CM000685.1:g.77373600_77373602del | GRCh37 |
| NC_000023.9:g.77260256_77260258del | NCBI36 |
| NG_008862.1:g.18935_18937del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373316.5:c.574_576del MANE Select | ENSP00000362413.4:p.Lys192del | |
| ENST00000644362.1:c.490_492del | ENSP00000496140.1:p.Lys164del | |
| ENST00000373316.4:c.574_576del | ENSP00000362413.4:p.Lys192del | |
| ENST00000491291.1:n.566_568del | ||
| NM_000291.3:c.574_576del | NP_000282.1:p.Lys192del | |
| NM_000291.4:c.574_576del MANE Select | NP_000282.1:p.Lys192del |