Linked Data
ClinVar Variation Id:
10532
ClinVar RCV Id:
RCV000011278
dbSNP Id:
rs587776732
PubMed:
PMID:7847371
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18951137_18951139del , CM000685.2:g.18951137_18951139del | GRCh38 |
| NC_000023.10:g.18969255_18969257del , CM000685.1:g.18969255_18969257del | GRCh37 |
| NC_000023.9:g.18879176_18879178del | NCBI36 |
| NG_016622.1:g.38226_38228del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379942.5:c.421_423del MANE Select | ENSP00000369274.4:p.Phe141del | |
| ENST00000379942.4:c.421_423del | ENSP00000369274.4:p.Phe141del | |
| NM_000292.2:c.421_423del | NP_000283.1:p.Phe141del | |
| XM_005274548.3:c.421_423del | XP_005274605.1:p.Phe141del | |
| XM_005274550.3:c.421_423del | XP_005274607.1:p.Phe141del | |
| XM_006724496.2:c.421_423del | XP_006724559.1:p.Phe141del | |
| XM_006724498.2:c.-93+1357_-93+1359del | XP_006724561.1:n.-93+1357_-93+1359del | |
| XM_011545537.1:c.421_423del | XP_011543839.1:p.Phe141del | |
| XR_950461.1:n.605_607del | ||
| XM_005274548.5:c.421_423del | XP_005274605.1:p.Phe141del | |
| XM_005274550.5:c.421_423del | XP_005274607.1:p.Phe141del | |
| XM_006724496.4:c.421_423del | XP_006724559.1:p.Phe141del | |
| XM_006724498.4:c.-93+1357_-93+1359del | XP_006724561.1:n.-93+1357_-93+1359del | |
| XM_011545537.3:c.421_423del | XP_011543839.1:p.Phe141del | |
| XM_017029580.2:c.-421_-419del | XP_016885069.1:n.-421_-419del | |
| XR_001755697.2:n.591_593del | ||
| XR_001755698.2:n.591_593del | ||
| XR_002958777.1:n.591_593del | ||
| XR_950461.3:n.591_593del | ||
| NM_000292.3:c.421_423del MANE Select | NP_000283.1:p.Phe141del |