Linked Data
ClinVar Variation Id:
97236
ClinVar RCV Id:
RCV000083476
dbSNP Id:
rs72556285
PubMed:
PMID:9452024
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38401420_38401425del , CM000685.2:g.38401420_38401425del | GRCh38 |
| NC_000023.10:g.38260673_38260678del , CM000685.1:g.38260673_38260678del | GRCh37 |
| NC_000023.9:g.38145617_38145622del | NCBI36 |
| NG_008471.1:g.53938_53943del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.532_537del MANE Select | ENSP00000039007.4:p.Thr178_Leu179del | |
| ENST00000643344.1:c.*282_*287del | ENSP00000496606.1:n.*282_*287del | |
| ENST00000039007.4:c.532_537del | ENSP00000039007.4:p.Thr178_Leu179del | |
| ENST00000465127.1:c.172-264701_172-264696del | ENSP00000417050.1:n.172-264701_172-264696del | |
| ENST00000488812.1:n.569_574del | ||
| NM_000531.5:c.532_537del | NP_000522.3:p.Thr178_Leu179del | |
| XM_017029556.1:c.532_537del | XP_016885045.1:p.Thr178_Leu179del | |
| NM_000531.6:c.532_537del MANE Select | NP_000522.3:p.Thr178_Leu179del |