Linked Data
ClinVar Variation Id:
1073680
ClinVar RCV Id:
RCV001386750
dbSNP Id:
rs1321245057
gnomAD v2:
16-1412304-AC-A
gnomAD v3:
16-1362303-AC-A
gnomAD v4:
16-1362303-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362308del , CM000678.2:g.1362308del | GRCh38 |
| NC_000016.9:g.1412309del , CM000678.1:g.1412309del | GRCh37 |
| NC_000016.8:g.1352310del | NCBI36 |
| NG_016985.1:g.15410del | |
| NG_033129.1:g.57401del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.613del | ||
| ENST00000529110.2:c.598del | ENSP00000435349.2:p.His200ThrfsTer4 | |
| ENST00000529957.6:n.572del | ||
| ENST00000683366.1:c.*246del | ENSP00000507283.1:n.*246del | |
| ENST00000683887.1:c.562del | ENSP00000506886.1:p.His188ThrfsTer4 | |
| ENST00000684100.1:n.508del | ||
| ENST00000684126.1:n.572del | ||
| ENST00000684688.1:n.1139del | ||
| ENST00000204679.9:c.514del MANE Select | ENSP00000204679.4:p.His172ThrfsTer4 | |
| ENST00000204679.8:c.514del | ENSP00000204679.4:p.His172ThrfsTer4 | |
| ENST00000527076.1:n.1530del | ||
| ENST00000527168.5:n.550del | ||
| ENST00000529957.5:n.613del | ||
| NM_032520.4:c.514del | NP_115909.1:p.His172ThrfsTer4 | |
| XM_017023782.1:c.562del | XP_016879271.1:p.His188ThrfsTer4 | |
| XM_017023783.1:c.154del | XP_016879272.1:p.His52ThrfsTer4 | |
| NM_032520.5:c.514del MANE Select | NP_115909.1:p.His172ThrfsTer4 |