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_000014.9:g.73218856_73218877delinsTTTTTCAAAGTAGTTTTACTTA , CM000676.2:g.73218856_73218877delinsTTTTTCAAAGTAGTTTTACTTA | GRCh38 |
| NC_000014.8:g.73685564_73685585delinsTTTTTCAAAGTAGTTTTACTTA , CM000676.1:g.73685564_73685585delinsTTTTTCAAAGTAGTTTTACTTA | GRCh37 |
| NC_000014.7:g.72755317_72755338delinsTTTTTCAAAGTAGTTTTACTTA | NCBI36 |
| NG_007386.2:g.87386_87407delinsTTTTTCAAAGTAGTTTTACTTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553599.6:c.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000452477.2:n.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000554131.6:c.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000451915.2:n.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000554995.2:n.1999-278_1999-257delinsTTTTTCAAAGTAGTTTTACTTA | ||
| ENST00000555386.6:c.*204-278_*204-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000450845.1:n.*204-278_*204-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000556066.2:n.1675-278_1675-257delinsTTTTTCAAAGTAGTTTTACTTA | ||
| ENST00000556951.6:c.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000450551.2:n.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000557293.6:c.1129-278_1129-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000451880.2:n.1129-278_1129-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000559361.6:c.*1193-278_*1193-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000454156.1:n.*1193-278_*1193-257delinsTTTTTCAAAGTAGTTT... | |
| ENST00000697912.1:c.*437-278_*437-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000513477.1:n.*437-278_*437-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000697913.1:n.6799-278_6799-257delinsTTTTTCAAAGTAGTTTTACTTA | ||
| ENST00000697915.1:n.606-278_606-257delinsTTTTTCAAAGTAGTTTTACTTA | ||
| ENST00000700265.1:c.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514901.1:n.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000700266.1:c.*1461-278_*1461-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514902.1:n.*1461-278_*1461-257delinsTTTTTCAAAGTAGTTT... | |
| ENST00000700267.1:c.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514903.1:n.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000700268.1:c.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514904.1:n.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000700269.1:c.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514905.1:n.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000700271.1:c.1063-278_1063-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514906.1:n.1063-278_1063-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000700272.1:c.*1193-278_*1193-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514907.1:n.*1193-278_*1193-257delinsTTTTTCAAAGTAGTTT... | |
| ENST00000700273.1:c.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514908.1:n.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000700302.1:c.*65-278_*65-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514929.1:n.*65-278_*65-257delinsTTTTTCAAAGTAGTTTTACT... | |
| ENST00000700303.1:c.*911-278_*911-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514930.1:n.*911-278_*911-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000700304.1:c.*1193-278_*1193-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514931.1:n.*1193-278_*1193-257delinsTTTTTCAAAGTAGTTT... | |
| ENST00000700305.1:c.*807-278_*807-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514932.1:n.*807-278_*807-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000700306.1:c.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514933.1:n.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000700307.1:c.1150-278_1150-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514934.1:n.1150-278_1150-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000700308.1:c.*1193-278_*1193-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514935.1:n.*1193-278_*1193-257delinsTTTTTCAAAGTAGTTT... | |
| ENST00000700309.1:c.*1338-278_*1338-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514936.1:n.*1338-278_*1338-257delinsTTTTTCAAAGTAGTTT... | |
| ENST00000700310.1:c.*204-278_*204-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514937.1:n.*204-278_*204-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000700311.1:c.*65-278_*65-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514938.1:n.*65-278_*65-257delinsTTTTTCAAAGTAGTTTTACT... | |
| ENST00000700312.1:c.1000-278_1000-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514939.1:n.1000-278_1000-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000700313.1:c.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514940.1:n.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000700314.1:c.*1188-278_*1188-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514941.1:n.*1188-278_*1188-257delinsTTTTTCAAAGTAGTTT... | |
| ENST00000700315.1:c.*807-278_*807-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514942.1:n.*807-278_*807-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000700316.1:c.*1029-278_*1029-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514943.1:n.*1029-278_*1029-257delinsTTTTTCAAAGTAGTTT... | |
| ENST00000700317.1:c.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514944.1:n.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000700318.1:c.*911-278_*911-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514945.1:n.*911-278_*911-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000700319.1:c.*689-278_*689-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514946.1:n.*689-278_*689-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000700320.1:c.1276-278_1276-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514947.1:n.1276-278_1276-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000700321.1:c.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514948.1:n.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000700322.1:c.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514949.1:n.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000700323.1:c.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514950.1:n.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000700324.1:c.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514951.1:n.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000700375.1:c.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514966.1:n.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000700377.1:c.*717-278_*717-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514967.1:n.*717-278_*717-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000700378.1:c.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514968.1:n.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000700379.1:n.1647-278_1647-257delinsTTTTTCAAAGTAGTTTTACTTA | ||
| ENST00000700389.1:c.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514970.1:n.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000700390.1:n.2960-278_2960-257delinsTTTTTCAAAGTAGTTTTACTTA | ||
| ENST00000700391.1:n.460-278_460-257delinsTTTTTCAAAGTAGTTTTACTTA | ||
| ENST00000700404.1:n.2248-278_2248-257delinsTTTTTCAAAGTAGTTTTACTTA | ||
| ENST00000700436.1:c.*204-278_*204-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514987.1:n.*204-278_*204-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000700437.1:c.1000-278_1000-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000514988.1:n.1000-278_1000-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000700468.1:c.1138-278_1138-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000515001.1:n.1138-278_1138-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000700469.1:c.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000515002.1:n.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000324501.10:c.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTACTTA MANE Select | ENSP00000326366.5:n.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000324501.9:c.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000326366.5:n.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000357710.8:c.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000350342.4:n.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000394164.5:c.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000377719.1:n.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000406768.1:c.973-278_973-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000385948.1:n.973-278_973-257delinsTTTTTCAAAGTAGTTTTACT... | |
| ENST00000555386.5:c.1329-278_1329-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000450845.1:n.1329-278_1329-257delinsTTTTTCAAAGTAGTTTTA... | |
| ENST00000555867.1:n.614-278_614-257delinsTTTTTCAAAGTAGTTTTACTTA | ||
| ENST00000557511.5:c.1075-278_1075-257delinsTTTTTCAAAGTAGTTTTACTTA | ENSP00000451429.1:n.1075-278_1075-257delinsTTTTTCAAAGTAGTTTTA... | |
| NM_000021.3:c.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTACTTA | NP_000012.1:n.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTACTTA | |
| NM_007318.2:c.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTACTTA | NP_015557.2:n.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTACTTA | |
| XM_005267864.1:c.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTACTTA | XP_005267921.1:n.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTACTT... | |
| XM_005267866.1:c.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTACTTA | XP_005267923.1:n.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTACTT... | |
| XM_011536971.1:c.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTACTTA | XP_011535273.1:n.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTACTT... | |
| XM_011536972.1:c.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTACTTA | XP_011535274.1:n.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTACTT... | |
| XM_011536973.1:c.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTACTTA | XP_011535275.1:n.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTACTT... | |
| XM_011536974.1:c.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTACTTA | XP_011535276.1:n.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTACTT... | |
| XM_005267864.3:c.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTACTTA | XP_005267921.1:n.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTACTT... | |
| XM_005267866.2:c.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTACTTA | XP_005267923.1:n.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTACTT... | |
| XM_011536972.2:c.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTACTTA | XP_011535274.1:n.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTACTT... | |
| XM_011536973.2:c.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTACTTA | XP_011535275.1:n.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTACTT... | |
| XM_011536974.2:c.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTACTTA | XP_011535276.1:n.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTACTT... | |
| NM_000021.4:c.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTACTTA MANE Select | NP_000012.1:n.1249-278_1249-257delinsTTTTTCAAAGTAGTTTTACTTA | |
| NM_007318.3:c.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTACTTA | NP_015557.2:n.1237-278_1237-257delinsTTTTTCAAAGTAGTTTTACTTA |