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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.31800611_31803052del , CM000673.2:g.31800611_31803052del | GRCh38 |
| NC_000011.9:g.31822159_31824600del , CM000673.1:g.31822159_31824600del | GRCh37 |
| NC_000011.8:g.31778735_31781176del | NCBI36 |
| NG_008679.1:g.19910_22351del , LRG_720:g.19910_22351del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241001.13:c.11-218_523+80del | ||
| ENST00000379107.7:c.11-218_565+80del | ||
| ENST00000379109.7:c.11-218_523+80del | ||
| ENST00000379111.7:c.11-218_523+80del | ||
| ENST00000379115.9:c.11-218_364+80del | ||
| ENST00000379123.10:c.-398-218_115+80del | ||
| ENST00000379129.7:c.11-218_565+80del | ||
| ENST00000379132.8:c.11-218_523+80del | ||
| ENST00000419022.6:c.11-218_565+80del | ||
| ENST00000423822.7:c.11-218_364+80del | ||
| ENST00000438681.6:c.11-218_364+80del | ||
| ENST00000455099.6:c.11-218_565+80del | ||
| ENST00000470027.7:n.1409_2843+80del | ||
| ENST00000471303.6:n.433-218_945+80del | ||
| ENST00000474783.2:n.541-218_1053+80del | ||
| ENST00000481563.6:c.-440-218_115+80del | ||
| ENST00000524853.6:c.11-218_523+80del | ||
| ENST00000606377.7:c.11-218_565+80del | ||
| ENST00000638250.1:c.-267-1276_115+80del | ||
| ENST00000638346.1:c.-398-218_115+80del | ||
| ENST00000638629.1:c.-989_115+80del | ||
| ENST00000638685.1:c.10+3350_10+5791del | ENSP00000492316.1:n.10+3350_10+5791del | |
| ENST00000638696.1:c.11-218_457+80del | ||
| ENST00000638755.1:c.11-218_415+80del | ||
| ENST00000638762.1:c.-658_115+80del | ||
| ENST00000638802.1:c.-440-218_115+80del | ||
| ENST00000638853.1:c.-336-218_115+80del | ||
| ENST00000638878.1:c.-398-218_115+80del | ||
| ENST00000638913.1:n.456-218_1672+80del | ||
| ENST00000638914.3:c.11-218_565+80del | ||
| ENST00000638963.1:c.11-218_523+80del | ||
| ENST00000638965.1:c.-80-8264_-80-5823del | ENSP00000492769.1:n.-80-8264_-80-5823del | |
| ENST00000639006.1:c.-537-218_115+80del | ||
| ENST00000639034.2:c.11-218_523+80del | ||
| ENST00000639054.1:n.430-218_1646+80del | ||
| ENST00000639061.1:c.-431_115+80del | ||
| ENST00000639079.1:c.-616_115+80del | ||
| ENST00000639109.1:c.-947_115+80del | ||
| ENST00000639386.2:c.-398-218_115+80del | ||
| ENST00000639394.1:c.11-218_*404+80del | ||
| ENST00000639409.1:c.11-218_565+80del | ||
| ENST00000639548.1:c.-332-218_115+80del | ||
| ENST00000639916.1:c.11-218_523+80del | ||
| ENST00000639943.1:c.11-218_364+80del | ||
| ENST00000639950.1:c.11-218_523+80del | ||
| ENST00000640125.1:c.-290-218_115+80del | ||
| ENST00000640172.1:n.544-218_1802+80del | ||
| ENST00000640242.1:c.14-218_526+80del | ||
| ENST00000640287.1:c.11-218_523+80del | ||
| ENST00000640335.1:c.10+3350_10+5791del | ENSP00000492808.1:n.10+3350_10+5791del | |
| ENST00000640368.2:c.11-218_565+80del | ||
| ENST00000640431.1:c.11-218_565+80del | ||
| ENST00000640460.1:c.11-218_523+80del | ||
| ENST00000640610.1:c.11-218_523+80del | ||
| ENST00000640613.1:c.11-218_364+80del | ||
| ENST00000640684.1:c.11-218_565+80del | ||
| ENST00000640766.1:c.-398-218_115+80del | ||
| ENST00000640872.1:c.-616_115+80del | ||
| ENST00000640963.1:c.11-218_565+80del | ||
| ENST00000640975.1:c.11-218_565+80del | ||
| ENST00000643871.1:c.11-218_523+80del | ||
| ENST00000241001.12:c.11-218_523+80del | ||
| ENST00000379107.6:c.11-218_565+80del | ||
| ENST00000379109.6:c.11-218_523+80del | ||
| ENST00000379111.6:c.11-218_523+80del | ||
| ENST00000379115.8:c.11-218_565+80del | ||
| ENST00000379123.9:c.11-218_523+80del | ||
| ENST00000379129.6:c.11-218_565+80del | ||
| ENST00000379132.7:c.11-218_523+80del | ||
| ENST00000419022.5:c.11-218_565+80del | ||
| ENST00000455099.5:c.11-218_364+80del | ||
| ENST00000464174.5:n.130-8264_130-5823del | ||
| ENST00000470027.6:n.995_2098+80del | ||
| ENST00000471303.5:n.94-218_606+80del | ||
| ENST00000494377.6:n.282_1716+80del | ||
| ENST00000533333.5:n.3772_5429+80del | ||
| ENST00000606377.5:c.11-218_565+80del | ||
| NM_000280.4:c.11-218_523+80del | ||
| NM_001127612.1:c.11-218_523+80del | ||
| NM_001258462.1:c.11-218_565+80del | ||
| NM_001258463.1:c.11-218_565+80del | ||
| NM_001258464.1:c.11-218_523+80del | ||
| NM_001258465.1:c.11-218_523+80del | ||
| NM_001310158.1:c.11-218_565+80del | ||
| NM_001310159.1:c.11-218_523+80del | ||
| NM_001310160.1:c.-989_115+80del | ||
| NM_001310161.1:c.-440-218_115+80del | ||
| NM_001604.5:c.11-218_565+80del | ||
| XM_005252954.3:c.11-218_565+80del | ||
| XM_005252955.3:c.11-218_523+80del | ||
| XM_005252956.3:c.11-218_523+80del | ||
| XM_005252958.3:c.-771-218_115+80del | ||
| XM_006718246.2:c.11-218_322+80del | ||
| XM_011520146.1:c.215-218_769+80del | ||
| XM_011520147.1:c.215-218_727+80del | ||
| XM_011520148.1:c.215-218_568+80del | ||
| XM_011520149.1:c.11-218_565+80del | ||
| XM_011520150.1:c.11-218_565+80del | ||
| XM_011520151.1:c.215-218_526+80del | ||
| XM_011520152.1:c.11-218_364+80del | ||
| XM_011520153.1:c.-440-218_115+80del | ||
| NM_001127612.2:c.11-218_523+80del | ||
| NM_001258462.2:c.11-218_565+80del | ||
| NM_001258465.2:c.11-218_523+80del | ||
| NM_001310161.2:c.-440-218_115+80del | ||
| NM_001368887.1:c.11-218_523+80del | ||
| NM_001368888.1:c.11-218_523+80del | ||
| NM_001368889.1:c.11-218_523+80del | ||
| NM_001368890.1:c.11-218_523+80del | ||
| NM_001368891.1:c.11-218_523+80del | ||
| NM_001368892.1:c.11-218_565+80del | ||
| NM_001368893.1:c.11-218_565+80del | ||
| NM_001368894.1:c.11-218_565+80del | ||
| NM_001368899.1:c.-398-218_115+80del | ||
| NM_001368900.1:c.-440-218_115+80del | ||
| NM_001368901.1:c.-398-218_115+80del | ||
| NM_001368902.1:c.-947_115+80del | ||
| NM_001368903.1:c.-658_115+80del | ||
| NM_001368904.1:c.-267-1276_115+80del | ||
| NM_001368905.1:c.-771-218_115+80del | ||
| NM_001368906.1:c.-398-218_115+80del | ||
| NM_001368907.1:c.-616_115+80del | ||
| NM_001368908.1:c.-440-218_115+80del | ||
| NM_001368909.1:c.-267-1276_115+80del | ||
| NM_001368910.1:c.254-218_766+80del | ||
| NM_001368911.1:c.14-218_568+80del | ||
| NM_001368912.1:c.11-218_565+80del | ||
| NM_001368913.1:c.11-218_565+80del | ||
| NM_001368914.1:c.11-218_565+80del | ||
| NM_001368915.1:c.11-218_523+80del | ||
| NM_001368916.1:c.11-218_523+80del | ||
| NM_001368917.1:c.11-218_523+80del | ||
| NM_001368918.1:c.11-218_640+80del | ||
| NM_001368919.1:c.11-218_640+80del | ||
| NM_001368920.1:c.11-218_598+80del | ||
| NM_001368921.1:c.11-218_364+80del | ||
| NM_001368922.1:c.11-218_364+80del | ||
| NM_001368923.1:c.11-218_364+80del | ||
| NM_001368924.1:c.11-218_364+80del | ||
| NM_001368925.1:c.11-218_364+80del | ||
| NM_001368926.1:c.11-218_364+80del | ||
| NM_001368927.1:c.11-218_364+80del | ||
| NM_001368928.1:c.11-218_322+80del | ||
| NM_001368929.1:c.-658_115+80del | ||
| NR_160916.1:n.433-218_987+80del | ||
| NR_160917.1:n.480-218_992+80del | ||
| NM_000280.5:c.11-218_523+80del | ||
| NM_001127612.3:c.11-218_523+80del | ||
| NM_001258462.3:c.11-218_565+80del | ||
| NM_001258463.2:c.11-218_565+80del | ||
| NM_001258464.2:c.11-218_523+80del | ||
| NM_001258465.3:c.11-218_523+80del | ||
| NM_001310158.2:c.11-218_565+80del | ||
| NM_001310160.2:c.-989_115+80del | ||
| NM_001310161.3:c.-440-218_115+80del | ||
| NM_001368887.2:c.11-218_523+80del | ||
| NM_001368888.2:c.11-218_523+80del | ||
| NM_001368889.2:c.11-218_523+80del | ||
| NM_001368890.2:c.11-218_523+80del | ||
| NM_001368891.2:c.11-218_523+80del | ||
| NM_001368892.2:c.11-218_565+80del | ||
| NM_001368893.2:c.11-218_565+80del | ||
| NM_001368894.2:c.11-218_565+80del | ||
| NM_001368899.2:c.-398-218_115+80del | ||
| NM_001368900.2:c.-440-218_115+80del | ||
| NM_001368901.2:c.-398-218_115+80del | ||
| NM_001368902.2:c.-947_115+80del | ||
| NM_001368903.2:c.-658_115+80del | ||
| NM_001368904.2:c.-267-1276_115+80del | ||
| NM_001368905.2:c.-771-218_115+80del | ||
| NM_001368906.2:c.-398-218_115+80del | ||
| NM_001368907.2:c.-616_115+80del | ||
| NM_001368908.2:c.-440-218_115+80del | ||
| NM_001368909.2:c.-267-1276_115+80del | ||
| NM_001368910.2:c.254-218_766+80del | ||
| NM_001368911.2:c.14-218_568+80del | ||
| NM_001368912.2:c.11-218_565+80del | ||
| NM_001368913.2:c.11-218_565+80del | ||
| NM_001368914.2:c.11-218_565+80del | ||
| NM_001368915.2:c.11-218_523+80del | ||
| NM_001368916.2:c.11-218_523+80del | ||
| NM_001368917.2:c.11-218_523+80del | ||
| NM_001368918.2:c.11-218_640+80del | ||
| NM_001368919.2:c.11-218_640+80del | ||
| NM_001368920.2:c.11-218_598+80del | ||
| NM_001368921.2:c.11-218_364+80del | ||
| NM_001368922.2:c.11-218_364+80del | ||
| NM_001368923.2:c.11-218_364+80del | ||
| NM_001368924.2:c.11-218_364+80del | ||
| NM_001368925.2:c.11-218_364+80del | ||
| NM_001368926.2:c.11-218_364+80del | ||
| NM_001368927.2:c.11-218_364+80del | ||
| NM_001368928.2:c.11-218_322+80del | ||
| NM_001368929.2:c.-658_115+80del | ||
| NM_001604.6:c.11-218_565+80del | ||
| NR_160916.2:n.433-218_987+80del | ||
| NR_160917.2:n.480-218_992+80del | ||
| NM_000280.6:c.11-218_523+80del |