SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
ClinVar Variation Id:
553471
ClinVar RCV Id:
RCV000668934
dbSNP Id:
rs1554820022
MyVariant Identifiers:
chr10:g.53822390del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53822391del , CM000672.2:g.53822391del | GRCh38 |
| NC_000010.10:g.55582151del , CM000672.1:g.55582151del | GRCh37 |
| NC_000010.9:g.55252157del | NCBI36 |
| NG_009191.2:g.983902del | |
| NG_009191.3:g.1811793del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613657.6:c.4409+2746del | ENSP00000482794.1:n.4409+2746del | |
| ENST00000320301.11:c.5336del MANE Plus Clinical | ENSP00000322604.6:p.Pro1779LeufsTer? | |
| ENST00000395445.6:c.4388+5003del | ENSP00000378832.2:n.4388+5003del | |
| ENST00000613657.5:c.4409+2746del | ENSP00000482794.1:n.4409+2746del | |
| ENST00000642496.1:c.3227-2160del | ||
| ENST00000644397.2:c.4368-2160del MANE Select | ENSP00000495195.1:n.4368-2160del | |
| ENST00000320301.10:c.5336del | ENSP00000322604.6:p.Pro1779LeufsTer? | |
| ENST00000361849.7:c.5342del | ENSP00000354950.3:p.Pro1781LeufsTer? | |
| ENST00000373956.7:c.*3291del | ENSP00000363067.4:n.*3291del | |
| ENST00000373957.7:c.5357del | ENSP00000363068.4:p.Pro1786LeufsTer? | |
| ENST00000373965.6:c.4373+2746del | ENSP00000363076.3:n.4373+2746del | |
| ENST00000395430.5:c.5327del | ENSP00000378818.1:p.Pro1776LeufsTer? | |
| ENST00000395432.6:c.5216del | ENSP00000378820.2:p.Pro1739LeufsTer? | |
| ENST00000395433.5:c.5267del | ENSP00000378821.1:p.Pro1756LeufsTer? | |
| ENST00000395438.5:c.4371+5002del | ENSP00000378826.2:n.4371+5002del | |
| ENST00000395440.5:c.1306-12844del | ENSP00000378827.1:n.1306-12844del | |
| ENST00000395442.5:c.1099-12844del | ENSP00000378829.1:n.1099-12844del | |
| ENST00000395445.5:c.4388+5003del | ENSP00000378832.2:n.4388+5003del | |
| ENST00000395446.5:c.2092-12844del | ENSP00000378833.1:n.2092-12844del | |
| ENST00000409834.5:c.3206+2746del | ENSP00000386693.1:n.3206+2746del | |
| ENST00000414367.5:c.*447+5003del | ENSP00000412531.1:n.*447+5003del | |
| ENST00000414778.5:c.4370+5003del | ENSP00000410304.2:n.4370+5003del | |
| ENST00000437009.5:c.5129del | ENSP00000412628.2:p.Pro1710LeufsTer? | |
| ENST00000448885.5:c.*3297del | ENSP00000412320.1:n.*3297del | |
| ENST00000463095.2:n.2355del | ||
| ENST00000495484.5:c.462-4377del | ENSP00000480780.1:n.462-4377del | |
| ENST00000612394.4:c.4406+5003del | ENSP00000482921.1:n.4406+5003del | |
| ENST00000613657.4:c.4409+2746del | ENSP00000482794.1:n.4409+2746del | |
| ENST00000614895.4:c.4385+5003del | ENSP00000478512.1:n.4385+5003del | |
| ENST00000616114.4:c.4367+5003del | ENSP00000483745.1:n.4367+5003del | |
| ENST00000617051.4:c.5363del | ENSP00000484703.1:p.Pro1788LeufsTer? | |
| ENST00000617271.4:c.4373+2746del | ENSP00000478076.1:n.4373+2746del | |
| ENST00000618301.4:c.594-4377del | ENSP00000482780.1:n.594-4377del | |
| ENST00000621708.4:c.4388+2746del | ENSP00000484454.1:n.4388+2746del | |
| ENST00000622048.4:c.5135del | ENSP00000482329.1:p.Pro1712LeufsTer? | |
| NM_001142763.1:c.5357del | NP_001136235.1:p.Pro1786LeufsTer? | |
| NM_001142764.1:c.5342del | NP_001136236.1:p.Pro1781LeufsTer? | |
| NM_001142765.1:c.5129del | NP_001136237.1:p.Pro1710LeufsTer? | |
| NM_001142766.1:c.5327del | NP_001136238.1:p.Pro1776LeufsTer? | |
| NM_001142767.1:c.5216del | NP_001136239.1:p.Pro1739LeufsTer? | |
| NM_001142768.1:c.5276del | NP_001136240.1:p.Pro1759LeufsTer? | |
| NM_001142769.1:c.4409+2746del | NP_001136241.1:n.4409+2746del | |
| NM_001142770.1:c.4373+2746del | NP_001136242.1:n.4373+2746del | |
| NM_001142771.1:c.4388+2746del | NP_001136243.1:n.4388+2746del | |
| NM_001142772.1:c.4373+2746del | NP_001136244.1:n.4373+2746del | |
| NM_001142773.1:c.5267del | NP_001136245.1:p.Pro1756LeufsTer? | |
| NM_033056.3:c.5336del | NP_149045.3:p.Pro1779LeufsTer? | |
| NM_001142769.2:c.4409+2746del | NP_001136241.1:n.4409+2746del | |
| NM_001142770.2:c.4373+2746del | NP_001136242.1:n.4373+2746del | |
| NM_001354404.1:c.5270del | NP_001341333.1:p.Pro1757LeufsTer? | |
| NM_001354411.1:c.4388+5003del | NP_001341340.1:n.4388+5003del | |
| NM_001354420.1:c.4367+5003del | NP_001341349.1:n.4367+5003del | |
| NM_001354429.1:c.4368-4377del | NP_001341358.1:n.4368-4377del | |
| XM_017016573.2:c.4388+2746del | XP_016872062.1:n.4388+2746del | |
| XR_001747192.2:n.6349del | ||
| XR_001747193.2:n.6340del | ||
| NM_001142763.2:c.5357del | NP_001136235.1:p.Pro1786LeufsTer? | |
| NM_001142764.2:c.5342del | NP_001136236.1:p.Pro1781LeufsTer? | |
| NM_001142765.2:c.5129del | NP_001136237.1:p.Pro1710LeufsTer? | |
| NM_001142766.2:c.5327del | NP_001136238.1:p.Pro1776LeufsTer? | |
| NM_001142768.2:c.5276del | NP_001136240.1:p.Pro1759LeufsTer? | |
| NM_001142769.3:c.4409+2746del | NP_001136241.1:n.4409+2746del | |
| NM_001142770.3:c.4373+2746del | NP_001136242.1:n.4373+2746del | |
| NM_001142771.2:c.4388+2746del | NP_001136243.1:n.4388+2746del | |
| NM_001142772.2:c.4373+2746del | NP_001136244.1:n.4373+2746del | |
| NM_001142773.2:c.5267del | NP_001136245.1:p.Pro1756LeufsTer? | |
| NM_001354411.2:c.4388+5003del | NP_001341340.1:n.4388+5003del | |
| NM_001354420.2:c.4367+5003del | NP_001341349.1:n.4367+5003del | |
| NM_001354429.2:c.4368-4377del | NP_001341358.1:n.4368-4377del | |
| NM_033056.4:c.5336del MANE Plus Clinical | NP_149045.3:p.Pro1779LeufsTer? | |
| NM_001142767.2:c.5216del | NP_001136239.1:p.Pro1739LeufsTer? | |
| NM_001354404.2:c.5270del | NP_001341333.1:p.Pro1757LeufsTer? | |
| NM_001384140.1:c.4368-2160del MANE Select | NP_001371069.1:n.4368-2160del |