ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108302881_108302895del , CM000673.2:g.108302881_108302895del | GRCh38 |
| NC_000011.9:g.108173608_108173622del , CM000673.1:g.108173608_108173622del | GRCh37 |
| NC_000011.8:g.107678818_107678832del | NCBI36 |
| NG_009830.1:g.85050_85064del , LRG_135:g.85050_85064del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.5348_5362del | ENSP00000388058.2:p.Glu1783_Glu1787del | |
| ENST00000713593.1:c.*4819_*4833del | ENSP00000518889.1:n.*4819_*4833del | |
| ENST00000278616.9:c.5348_5362del | ENSP00000278616.4:p.Glu1783_Glu1787del | |
| ENST00000683174.1:n.6832_6846del | ||
| ENST00000683524.1:n.572_586del | ||
| ENST00000684152.1:n.1062_1076del | ||
| ENST00000527805.6:c.*412_*426del | ENSP00000435747.2:n.*412_*426del | |
| ENST00000675595.1:c.*412_*426del | ENSP00000502563.1:n.*412_*426del | |
| ENST00000675843.1:c.5348_5362del MANE Select | ENSP00000501606.1:p.Glu1783_Glu1787del | |
| ENST00000278616.8:c.5348_5362del | ENSP00000278616.4:p.Glu1783_Glu1787del | |
| ENST00000452508.6:c.5348_5362del | ENSP00000388058.2:p.Glu1783_Glu1787del | |
| ENST00000524792.5:n.1563_1577del | ||
| ENST00000533690.5:n.752_766del | ||
| ENST00000534625.1:n.577_591del | ||
| NM_000051.3:c.5348_5362del , LRG_135t1:c.5348_5362del | NP_000042.3:p.Glu1783_Glu1787del | |
| XM_005271561.3:c.5348_5362del | XP_005271618.2:p.Glu1783_Glu1787del | |
| XM_005271562.3:c.5348_5362del | XP_005271619.2:p.Glu1783_Glu1787del | |
| XM_006718843.2:c.5348_5362del | XP_006718906.1:p.Glu1783_Glu1787del | |
| XM_006718845.1:c.1304_1318del | XP_006718908.1:p.Glu435_Glu439del | |
| XM_011542840.1:c.5348_5362del | XP_011541142.1:p.Glu1783_Glu1787del | |
| XM_011542841.1:c.5348_5362del | XP_011541143.1:p.Glu1783_Glu1787del | |
| XM_011542842.1:c.5183_5197del | XP_011541144.1:p.Glu1728_Glu1732del | |
| XM_011542843.1:c.5348_5362del | XP_011541145.1:p.Glu1783_Glu1787del | |
| XM_011542844.1:c.4304_4318del | XP_011541146.1:p.Glu1435_Glu1439del | |
| XM_011542845.1:c.4040_4054del | XP_011541147.1:p.Glu1347_Glu1351del | |
| XM_011542846.1:c.*6_*20del | XP_011541148.1:n.*6_*20del | |
| XM_011542847.1:c.419_433del | XP_011541149.1:p.Glu140_Glu144del | |
| NM_001351834.1:c.5348_5362del | NP_001338763.1:p.Glu1783_Glu1787del | |
| XM_005271562.5:c.5348_5362del | XP_005271619.2:p.Glu1783_Glu1787del | |
| XM_006718843.4:c.5348_5362del | XP_006718906.1:p.Glu1783_Glu1787del | |
| XM_006718845.2:c.1304_1318del | XP_006718908.1:p.Glu435_Glu439del | |
| XM_011542840.3:c.5348_5362del | XP_011541142.1:p.Glu1783_Glu1787del | |
| XM_011542842.3:c.5183_5197del | XP_011541144.1:p.Glu1728_Glu1732del | |
| XM_011542843.2:c.5348_5362del | XP_011541145.1:p.Glu1783_Glu1787del | |
| XM_011542844.3:c.4304_4318del | XP_011541146.1:p.Glu1435_Glu1439del | |
| XM_011542845.2:c.4040_4054del | XP_011541147.1:p.Glu1347_Glu1351del | |
| XM_017017789.2:c.5348_5362del | XP_016873278.1:p.Glu1783_Glu1787del | |
| XM_017017790.2:c.5348_5362del | XP_016873279.1:p.Glu1783_Glu1787del | |
| XM_017017791.1:c.5348_5362del | XP_016873280.1:p.Glu1783_Glu1787del | |
| XM_017017792.2:c.*29_*43del | XP_016873281.1:n.*29_*43del | |
| XR_002957150.1:n.5948_5962del | ||
| NM_001351834.2:c.5348_5362del | NP_001338763.1:p.Glu1783_Glu1787del | |
| NM_000051.4:c.5348_5362del MANE Select | NP_000042.3:p.Glu1783_Glu1787del |