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
dbSNP Id:
rs1899716408
gnomAD v3:
14-73212088-C-CTTTTTTTTTTTTGTTTTTTT
gnomAD v4:
14-73212088-C-CTTTTTTTTTTTTGTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73212100_73212101insGTTTTTTTTTTTTTTTTTTT , CM000676.2:g.73212100_73212101insGTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000014.8:g.73678808_73678809insGTTTTTTTTTTTTTTTTTTT , CM000676.1:g.73678808_73678809insGTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000014.7:g.72748561_72748562insGTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_007386.2:g.80630_80631insGTTTTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553599.6:c.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000452477.2:n.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000554131.6:c.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000451915.2:n.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000554995.2:n.1879+158_1879+159insGTTTTTTTTTTTTTTTTTTT | ||
| ENST00000555386.6:c.*84+158_*84+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000450845.1:n.*84+158_*84+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000556066.2:n.1555+158_1555+159insGTTTTTTTTTTTTTTTTTTT | ||
| ENST00000556951.6:c.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000450551.2:n.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000557293.6:c.1009+158_1009+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000451880.2:n.1009+158_1009+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000559361.6:c.*1073+158_*1073+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000454156.1:n.*1073+158_*1073+159insGTTTTTTTTTTTTTTTTTT... | |
| ENST00000697912.1:c.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000513477.1:n.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000697913.1:n.6679+158_6679+159insGTTTTTTTTTTTTTTTTTTT | ||
| ENST00000700265.1:c.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514901.1:n.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700266.1:c.*1341+158_*1341+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514902.1:n.*1341+158_*1341+159insGTTTTTTTTTTTTTTTTTT... | |
| ENST00000700267.1:c.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514903.1:n.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700268.1:c.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514904.1:n.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700269.1:c.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514905.1:n.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700271.1:c.944-5026_944-5025insGTTTTTTTTTTTTTTTTTTT | ENSP00000514906.1:n.944-5026_944-5025insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700272.1:c.*1073+158_*1073+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514907.1:n.*1073+158_*1073+159insGTTTTTTTTTTTTTTTTTT... | |
| ENST00000700273.1:c.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514908.1:n.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700302.1:c.1172+115_1172+116insGTTTTTTTTTTTTTTTTTTT | ENSP00000514929.1:n.1172+115_1172+116insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700303.1:c.*791+158_*791+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514930.1:n.*791+158_*791+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700304.1:c.*1073+158_*1073+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514931.1:n.*1073+158_*1073+159insGTTTTTTTTTTTTTTTTTT... | |
| ENST00000700305.1:c.*687+158_*687+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514932.1:n.*687+158_*687+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700306.1:c.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514933.1:n.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700307.1:c.1030+158_1030+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514934.1:n.1030+158_1030+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700308.1:c.*1073+158_*1073+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514935.1:n.*1073+158_*1073+159insGTTTTTTTTTTTTTTTTTT... | |
| ENST00000700309.1:c.*1218+158_*1218+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514936.1:n.*1218+158_*1218+159insGTTTTTTTTTTTTTTTTTT... | |
| ENST00000700310.1:c.*84+158_*84+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514937.1:n.*84+158_*84+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700311.1:c.1172+115_1172+116insGTTTTTTTTTTTTTTTTTTT | ENSP00000514938.1:n.1172+115_1172+116insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700312.1:c.880+158_880+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514939.1:n.880+158_880+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700313.1:c.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514940.1:n.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700314.1:c.*1068+158_*1068+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514941.1:n.*1068+158_*1068+159insGTTTTTTTTTTTTTTTTTT... | |
| ENST00000700315.1:c.*687+158_*687+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514942.1:n.*687+158_*687+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700316.1:c.*909+158_*909+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514943.1:n.*909+158_*909+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700317.1:c.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514944.1:n.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700318.1:c.*791+158_*791+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514945.1:n.*791+158_*791+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700319.1:c.*569+158_*569+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514946.1:n.*569+158_*569+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700320.1:c.1156+158_1156+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514947.1:n.1156+158_1156+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700321.1:c.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514948.1:n.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700322.1:c.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514949.1:n.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700323.1:c.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514950.1:n.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700324.1:c.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514951.1:n.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700375.1:c.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514966.1:n.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700377.1:c.*597+158_*597+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514967.1:n.*597+158_*597+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700378.1:c.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514968.1:n.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700379.1:n.1527+158_1527+159insGTTTTTTTTTTTTTTTTTTT | ||
| ENST00000700389.1:c.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514970.1:n.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700390.1:n.2840+158_2840+159insGTTTTTTTTTTTTTTTTTTT | ||
| ENST00000700391.1:n.340+158_340+159insGTTTTTTTTTTTTTTTTTTT | ||
| ENST00000700404.1:n.2128+158_2128+159insGTTTTTTTTTTTTTTTTTTT | ||
| ENST00000700435.1:n.1264+158_1264+159insGTTTTTTTTTTTTTTTTTTT | ||
| ENST00000700436.1:c.*84+158_*84+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514987.1:n.*84+158_*84+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700437.1:c.880+158_880+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000514988.1:n.880+158_880+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700468.1:c.1018+158_1018+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000515001.1:n.1018+158_1018+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000700469.1:c.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000515002.1:n.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000324501.10:c.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT MANE Select | ENSP00000326366.5:n.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000324501.9:c.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000326366.5:n.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000357710.8:c.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000350342.4:n.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000394164.5:c.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000377719.1:n.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000406768.1:c.853+158_853+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000385948.1:n.853+158_853+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000553855.5:c.1221+158_1221+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000452242.1:n.1221+158_1221+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000555386.5:c.1209+158_1209+159insGTTTTTTTTTTTTTTTTTTT | ENSP00000450845.1:n.1209+158_1209+159insGTTTTTTTTTTTTTTTTTTT | |
| ENST00000555867.1:n.494+158_494+159insGTTTTTTTTTTTTTTTTTTT | ||
| ENST00000557511.5:c.956-5026_956-5025insGTTTTTTTTTTTTTTTTTTT | ENSP00000451429.1:n.956-5026_956-5025insGTTTTTTTTTTTTTTTTTTT | |
| NM_000021.3:c.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | NP_000012.1:n.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | |
| NM_007318.2:c.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | NP_015557.2:n.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | |
| XM_005267864.1:c.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | XP_005267921.1:n.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | |
| XM_005267866.1:c.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | XP_005267923.1:n.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | |
| XM_011536971.1:c.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | XP_011535273.1:n.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | |
| XM_011536972.1:c.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | XP_011535274.1:n.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | |
| XM_011536973.1:c.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | XP_011535275.1:n.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | |
| XM_011536974.1:c.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | XP_011535276.1:n.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | |
| XM_005267864.3:c.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | XP_005267921.1:n.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | |
| XM_005267866.2:c.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | XP_005267923.1:n.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | |
| XM_011536972.2:c.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | XP_011535274.1:n.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | |
| XM_011536973.2:c.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | XP_011535275.1:n.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | |
| XM_011536974.2:c.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | XP_011535276.1:n.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | |
| NM_000021.4:c.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT MANE Select | NP_000012.1:n.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT | |
| NM_007318.3:c.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT | NP_015557.2:n.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT |