ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87952210del , CM000672.2:g.87952210del | GRCh38 |
| NC_000010.10:g.89711967del , CM000672.1:g.89711967del | GRCh37 |
| NC_000010.9:g.89701947del | NCBI36 |
| NG_007466.2:g.93772del , LRG_311:g.93772del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.585del | ENSP00000514759.2:p.His196ThrfsTer3 | |
| ENST00000710265.1:c.585del | ENSP00000518161.1:p.His196ThrfsTer3 | |
| ENST00000472832.3:c.585del | ENSP00000483066.2:p.His196ThrfsTer3 | |
| ENST00000688158.2:n.1320del | ||
| ENST00000688922.2:c.*415del | ENSP00000508742.2:n.*415del | |
| ENST00000700021.1:c.540del | ENSP00000514757.1:p.His181ThrfsTer3 | |
| ENST00000700022.1:c.493-5643del | ENSP00000514758.1:n.493-5643del | |
| ENST00000700023.1:n.1743del | ||
| ENST00000700024.1:n.1977del | ||
| ENST00000700025.1:n.1354del | ||
| ENST00000700029.1:c.419del | ||
| ENST00000706954.1:c.585del | ENSP00000516674.1:p.His196ThrfsTer3 | |
| ENST00000706955.1:c.*620del | ENSP00000516675.1:n.*620del | |
| ENST00000686459.1:c.*171del | ENSP00000508909.1:n.*171del | |
| ENST00000688158.1:c.*696del | ENSP00000509254.1:n.*696del | |
| ENST00000688308.1:c.585del | ENSP00000508752.1:p.His196ThrfsTer3 | |
| ENST00000688922.1:c.506del | ||
| ENST00000693560.1:c.1104del | ENSP00000509861.1:p.His369ThrfsTer3 | |
| ENST00000371953.8:c.585del MANE Select | ENSP00000361021.3:p.His196ThrfsTer3 | |
| ENST00000371953.7:c.585del | ENSP00000361021.3:p.His196ThrfsTer3 | |
| ENST00000472832.2:c.12del | ENSP00000483066.1:p.His5ThrfsTer3 | |
| NM_000314.5:c.585del | NP_000305.3:p.His196ThrfsTer3 | |
| NM_000314.6:c.585del | NP_000305.3:p.His196ThrfsTer3 | |
| NM_001304717.2:c.1104del | NP_001291646.2:p.His369ThrfsTer3 | |
| NM_001304718.1:c.-7del | NP_001291647.1:n.-7del | |
| XM_006717926.2:c.540del | XP_006717989.1:p.His181ThrfsTer3 | |
| XM_011539981.1:c.585del | XP_011538283.1:p.His196ThrfsTer3 | |
| XM_011539982.1:c.489del | XP_011538284.1:p.His164ThrfsTer3 | |
| XR_945791.1:n.1205-5643del | ||
| NM_000314.7:c.585del | NP_000305.3:p.His196ThrfsTer3 | |
| NM_001304717.5:c.1104del | NP_001291646.4:p.His369ThrfsTer3 | |
| NM_001304718.2:c.-7del | NP_001291647.1:n.-7del | |
| NM_000314.8:c.585del MANE Select | NP_000305.3:p.His196ThrfsTer3 |