Linked Data
ClinVar Variation Id:
224887
ClinVar RCV Id:
RCV000210451
dbSNP Id:
rs879253732
PubMed:
PMID:26304966
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10378258del , CM000681.2:g.10378258del | GRCh38 |
| NC_000019.9:g.10488934del , CM000681.1:g.10488934del | GRCh37 |
| NC_000019.8:g.10349934del | NCBI36 |
| NG_007872.1:g.7315del , LRG_121:g.7315del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524470.2:c.149del | ENSP00000514307.1:p.Ser50CysfsTer2 | |
| ENST00000525976.6:c.149del | ENSP00000434831.2:p.Ser50CysfsTer2 | |
| ENST00000527481.3:c.149del | ENSP00000466340.2:p.Ser50CysfsTer2 | |
| ENST00000529370.6:n.480del | ||
| ENST00000529739.2:n.563del | ||
| ENST00000530829.2:c.149del | ENSP00000436826.2:p.Ser50CysfsTer2 | |
| ENST00000531836.6:c.149del | ENSP00000436175.2:p.Ser50CysfsTer2 | |
| ENST00000533334.2:c.149del | ENSP00000432320.2:p.Ser50CysfsTer2 | |
| ENST00000534228.2:n.563del | ||
| ENST00000699355.1:c.149del | ENSP00000514328.1:p.Ser50CysfsTer2 | |
| ENST00000699356.1:n.563del | ||
| ENST00000699357.1:n.563del | ||
| ENST00000699358.1:c.149del | ENSP00000514329.1:p.Ser50CysfsTer2 | |
| ENST00000699360.1:c.149del | ENSP00000514331.1:p.Ser50CysfsTer2 | |
| ENST00000699369.1:n.492del | ||
| ENST00000699370.1:n.514del | ||
| ENST00000699371.1:c.149del | ENSP00000514336.1:p.Ser50CysfsTer2 | |
| ENST00000525621.6:c.149del MANE Select | ENSP00000431885.1:p.Ser50CysfsTer2 | |
| ENST00000264818.10:c.149del | ENSP00000264818.6:p.Ser50CysfsTer2 | |
| ENST00000524462.5:c.-91+2252del | ENSP00000433203.1:n.-91+2252del | |
| ENST00000525621.5:c.149del | ENSP00000431885.1:p.Ser50CysfsTer2 | |
| ENST00000529370.5:c.149del | ENSP00000432728.1:p.Ser50CysfsTer2 | |
| ENST00000530829.1:c.149del | ENSP00000436826.1:p.Ser50CysfsTer2 | |
| ENST00000531836.5:c.149del | ENSP00000436175.1:p.Ser50CysfsTer2 | |
| NM_003331.4:c.149del , LRG_121t1:c.149del | NP_003322.3:p.Ser50CysfsTer2 | |
| XM_011528245.1:c.149del | XP_011526547.1:p.Ser50CysfsTer2 | |
| XM_011528246.1:c.-381del | XP_011526548.1:n.-381del | |
| XM_011528248.1:c.149del | XP_011526550.1:p.Ser50CysfsTer2 | |
| XM_011528250.1:c.149del | XP_011526552.1:p.Ser50CysfsTer2 | |
| XM_011528252.1:c.149del | XP_011526554.1:p.Ser50CysfsTer2 | |
| XM_011528246.3:c.-381del | XP_011526548.1:n.-381del | |
| XR_001753750.1:n.306del | ||
| XR_001753751.1:n.306del | ||
| XR_001753752.1:n.306del | ||
| XR_002958353.1:n.306del | ||
| NM_003331.5:c.149del MANE Select | NP_003322.3:p.Ser50CysfsTer2 | |
| NM_001385197.1:c.149del | NP_001372126.1:p.Ser50CysfsTer2 | |
| NM_001385198.1:c.149del | NP_001372127.1:p.Ser50CysfsTer2 | |
| NM_001385199.1:c.149del | NP_001372128.1:p.Ser50CysfsTer2 | |
| NM_001385200.1:c.149del | NP_001372129.1:p.Ser50CysfsTer2 | |
| NM_001385201.1:c.149del | NP_001372130.1:p.Ser50CysfsTer2 | |
| NM_001385202.1:c.149del | NP_001372131.1:p.Ser50CysfsTer2 | |
| NM_001385203.1:c.149del | NP_001372132.1:p.Ser50CysfsTer2 | |
| NM_001385204.1:c.149del | NP_001372133.1:p.Ser50CysfsTer2 | |
| NM_001385205.1:c.149del | NP_001372134.1:p.Ser50CysfsTer2 | |
| NM_001385206.1:c.149del | NP_001372135.1:p.Ser50CysfsTer2 | |
| NM_001385207.1:c.149del | NP_001372136.1:p.Ser50CysfsTer2 |