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
gnomAD v4:
14-73198197-A-AATGCACAGCATTCCTGGAACT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73198197_73198198insATGCACAGCATTCCTGGAACT , CM000676.2:g.73198197_73198198insATGCACAGCATTCCTGGAACT | GRCh38 |
| NC_000014.8:g.73664905_73664906insATGCACAGCATTCCTGGAACT , CM000676.1:g.73664905_73664906insATGCACAGCATTCCTGGAACT | GRCh37 |
| NC_000014.7:g.72734658_72734659insATGCACAGCATTCCTGGAACT | NCBI36 |
| NG_007386.2:g.66727_66728insATGCACAGCATTCCTGGAACT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553599.6:c.856+68_856+69insATGCACAGCATTCCTGGAACT | ENSP00000452477.2:n.856+68_856+69insATGCACAGCATTCCTGGAACT | |
| ENST00000554131.6:c.868+68_868+69insATGCACAGCATTCCTGGAACT | ENSP00000451915.2:n.868+68_868+69insATGCACAGCATTCCTGGAACT | |
| ENST00000554995.2:n.1618+68_1618+69insATGCACAGCATTCCTGGAACT | ||
| ENST00000555386.6:c.856+68_856+69insATGCACAGCATTCCTGGAACT | ENSP00000450845.1:n.856+68_856+69insATGCACAGCATTCCTGGAACT | |
| ENST00000556066.2:n.1294+68_1294+69insATGCACAGCATTCCTGGAACT | ||
| ENST00000556951.6:c.856+68_856+69insATGCACAGCATTCCTGGAACT | ENSP00000450551.2:n.856+68_856+69insATGCACAGCATTCCTGGAACT | |
| ENST00000557293.6:c.748+68_748+69insATGCACAGCATTCCTGGAACT | ENSP00000451880.2:n.748+68_748+69insATGCACAGCATTCCTGGAACT | |
| ENST00000559361.6:c.*812+68_*812+69insATGCACAGCATTCCTGGAACT | ENSP00000454156.1:n.*812+68_*812+69insATGCACAGCATTCCTGGAACT | |
| ENST00000697912.1:c.856+68_856+69insATGCACAGCATTCCTGGAACT | ENSP00000513477.1:n.856+68_856+69insATGCACAGCATTCCTGGAACT | |
| ENST00000697913.1:n.1122+68_1122+69insATGCACAGCATTCCTGGAACT | ||
| ENST00000700265.1:c.856+68_856+69insATGCACAGCATTCCTGGAACT | ENSP00000514901.1:n.856+68_856+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700266.1:c.*1080+68_*1080+69insATGCACAGCATTCCTGGAACT | ENSP00000514902.1:n.*1080+68_*1080+69insATGCACAGCATTCCTGGAACT... | |
| ENST00000700267.1:c.868+68_868+69insATGCACAGCATTCCTGGAACT | ENSP00000514903.1:n.868+68_868+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700268.1:c.868+68_868+69insATGCACAGCATTCCTGGAACT | ENSP00000514904.1:n.868+68_868+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700269.1:c.868+68_868+69insATGCACAGCATTCCTGGAACT | ENSP00000514905.1:n.868+68_868+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700270.1:n.1124+68_1124+69insATGCACAGCATTCCTGGAACT | ||
| ENST00000700271.1:c.856+68_856+69insATGCACAGCATTCCTGGAACT | ENSP00000514906.1:n.856+68_856+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700272.1:c.*812+68_*812+69insATGCACAGCATTCCTGGAACT | ENSP00000514907.1:n.*812+68_*812+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700273.1:c.856+68_856+69insATGCACAGCATTCCTGGAACT | ENSP00000514908.1:n.856+68_856+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700302.1:c.868+68_868+69insATGCACAGCATTCCTGGAACT | ENSP00000514929.1:n.868+68_868+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700303.1:c.*530+68_*530+69insATGCACAGCATTCCTGGAACT | ENSP00000514930.1:n.*530+68_*530+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700304.1:c.*812+68_*812+69insATGCACAGCATTCCTGGAACT | ENSP00000514931.1:n.*812+68_*812+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700305.1:c.*426+68_*426+69insATGCACAGCATTCCTGGAACT | ENSP00000514932.1:n.*426+68_*426+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700306.1:c.868+68_868+69insATGCACAGCATTCCTGGAACT | ENSP00000514933.1:n.868+68_868+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700307.1:c.769+5333_769+5334insATGCACAGCATTCCTGGAACT | ENSP00000514934.1:n.769+5333_769+5334insATGCACAGCATTCCTGGAACT... | |
| ENST00000700308.1:c.*812+68_*812+69insATGCACAGCATTCCTGGAACT | ENSP00000514935.1:n.*812+68_*812+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700309.1:c.*957+68_*957+69insATGCACAGCATTCCTGGAACT | ENSP00000514936.1:n.*957+68_*957+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700310.1:c.757+5333_757+5334insATGCACAGCATTCCTGGAACT | ENSP00000514937.1:n.757+5333_757+5334insATGCACAGCATTCCTGGAACT... | |
| ENST00000700311.1:c.868+68_868+69insATGCACAGCATTCCTGGAACT | ENSP00000514938.1:n.868+68_868+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700312.1:c.619+68_619+69insATGCACAGCATTCCTGGAACT | ENSP00000514939.1:n.619+68_619+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700313.1:c.856+68_856+69insATGCACAGCATTCCTGGAACT | ENSP00000514940.1:n.856+68_856+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700314.1:c.*807+68_*807+69insATGCACAGCATTCCTGGAACT | ENSP00000514941.1:n.*807+68_*807+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700315.1:c.*426+68_*426+69insATGCACAGCATTCCTGGAACT | ENSP00000514942.1:n.*426+68_*426+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700316.1:c.*648+68_*648+69insATGCACAGCATTCCTGGAACT | ENSP00000514943.1:n.*648+68_*648+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700317.1:c.868+68_868+69insATGCACAGCATTCCTGGAACT | ENSP00000514944.1:n.868+68_868+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700318.1:c.*530+68_*530+69insATGCACAGCATTCCTGGAACT | ENSP00000514945.1:n.*530+68_*530+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700319.1:c.*308+68_*308+69insATGCACAGCATTCCTGGAACT | ENSP00000514946.1:n.*308+68_*308+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700320.1:c.895+68_895+69insATGCACAGCATTCCTGGAACT | ENSP00000514947.1:n.895+68_895+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700321.1:c.868+68_868+69insATGCACAGCATTCCTGGAACT | ENSP00000514948.1:n.868+68_868+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700322.1:c.856+68_856+69insATGCACAGCATTCCTGGAACT | ENSP00000514949.1:n.856+68_856+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700323.1:c.868+68_868+69insATGCACAGCATTCCTGGAACT | ENSP00000514950.1:n.868+68_868+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700324.1:c.856+68_856+69insATGCACAGCATTCCTGGAACT | ENSP00000514951.1:n.856+68_856+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700375.1:c.868+68_868+69insATGCACAGCATTCCTGGAACT | ENSP00000514966.1:n.868+68_868+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700377.1:c.*336+68_*336+69insATGCACAGCATTCCTGGAACT | ENSP00000514967.1:n.*336+68_*336+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700378.1:c.868+68_868+69insATGCACAGCATTCCTGGAACT | ENSP00000514968.1:n.868+68_868+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700379.1:n.1266+68_1266+69insATGCACAGCATTCCTGGAACT | ||
| ENST00000700389.1:c.856+68_856+69insATGCACAGCATTCCTGGAACT | ENSP00000514970.1:n.856+68_856+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700390.1:n.2579+68_2579+69insATGCACAGCATTCCTGGAACT | ||
| ENST00000700404.1:n.1867+68_1867+69insATGCACAGCATTCCTGGAACT | ||
| ENST00000700433.1:n.1119+68_1119+69insATGCACAGCATTCCTGGAACT | ||
| ENST00000700434.1:n.1121+68_1121+69insATGCACAGCATTCCTGGAACT | ||
| ENST00000700435.1:n.1003+68_1003+69insATGCACAGCATTCCTGGAACT | ||
| ENST00000700436.1:c.868+68_868+69insATGCACAGCATTCCTGGAACT | ENSP00000514987.1:n.868+68_868+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700437.1:c.619+68_619+69insATGCACAGCATTCCTGGAACT | ENSP00000514988.1:n.619+68_619+69insATGCACAGCATTCCTGGAACT | |
| ENST00000700467.1:n.1125+68_1125+69insATGCACAGCATTCCTGGAACT | ||
| ENST00000700468.1:c.757+5333_757+5334insATGCACAGCATTCCTGGAACT | ENSP00000515001.1:n.757+5333_757+5334insATGCACAGCATTCCTGGAACT... | |
| ENST00000700469.1:c.856+68_856+69insATGCACAGCATTCCTGGAACT | ENSP00000515002.1:n.856+68_856+69insATGCACAGCATTCCTGGAACT | |
| ENST00000324501.10:c.868+68_868+69insATGCACAGCATTCCTGGAACT MANE Select | ENSP00000326366.5:n.868+68_868+69insATGCACAGCATTCCTGGAACT | |
| ENST00000324501.9:c.868+68_868+69insATGCACAGCATTCCTGGAACT | ENSP00000326366.5:n.868+68_868+69insATGCACAGCATTCCTGGAACT | |
| ENST00000357710.8:c.856+68_856+69insATGCACAGCATTCCTGGAACT | ENSP00000350342.4:n.856+68_856+69insATGCACAGCATTCCTGGAACT | |
| ENST00000394164.5:c.856+68_856+69insATGCACAGCATTCCTGGAACT | ENSP00000377719.1:n.856+68_856+69insATGCACAGCATTCCTGGAACT | |
| ENST00000406768.1:c.592+68_592+69insATGCACAGCATTCCTGGAACT | ENSP00000385948.1:n.592+68_592+69insATGCACAGCATTCCTGGAACT | |
| ENST00000553855.5:c.868+68_868+69insATGCACAGCATTCCTGGAACT | ENSP00000452242.1:n.868+68_868+69insATGCACAGCATTCCTGGAACT | |
| ENST00000554995.1:n.420+68_420+69insATGCACAGCATTCCTGGAACT | ||
| ENST00000555386.5:c.856+68_856+69insATGCACAGCATTCCTGGAACT | ENSP00000450845.1:n.856+68_856+69insATGCACAGCATTCCTGGAACT | |
| ENST00000557511.5:c.868+68_868+69insATGCACAGCATTCCTGGAACT | ENSP00000451429.1:n.868+68_868+69insATGCACAGCATTCCTGGAACT | |
| NM_000021.3:c.868+68_868+69insATGCACAGCATTCCTGGAACT | NP_000012.1:n.868+68_868+69insATGCACAGCATTCCTGGAACT | |
| NM_007318.2:c.856+68_856+69insATGCACAGCATTCCTGGAACT | NP_015557.2:n.856+68_856+69insATGCACAGCATTCCTGGAACT | |
| XM_005267864.1:c.868+68_868+69insATGCACAGCATTCCTGGAACT | XP_005267921.1:n.868+68_868+69insATGCACAGCATTCCTGGAACT | |
| XM_005267866.1:c.856+68_856+69insATGCACAGCATTCCTGGAACT | XP_005267923.1:n.856+68_856+69insATGCACAGCATTCCTGGAACT | |
| XM_011536971.1:c.868+68_868+69insATGCACAGCATTCCTGGAACT | XP_011535273.1:n.868+68_868+69insATGCACAGCATTCCTGGAACT | |
| XM_011536972.1:c.868+68_868+69insATGCACAGCATTCCTGGAACT | XP_011535274.1:n.868+68_868+69insATGCACAGCATTCCTGGAACT | |
| XM_011536973.1:c.856+68_856+69insATGCACAGCATTCCTGGAACT | XP_011535275.1:n.856+68_856+69insATGCACAGCATTCCTGGAACT | |
| XM_011536974.1:c.856+68_856+69insATGCACAGCATTCCTGGAACT | XP_011535276.1:n.856+68_856+69insATGCACAGCATTCCTGGAACT | |
| XM_005267864.3:c.868+68_868+69insATGCACAGCATTCCTGGAACT | XP_005267921.1:n.868+68_868+69insATGCACAGCATTCCTGGAACT | |
| XM_005267866.2:c.856+68_856+69insATGCACAGCATTCCTGGAACT | XP_005267923.1:n.856+68_856+69insATGCACAGCATTCCTGGAACT | |
| XM_011536972.2:c.868+68_868+69insATGCACAGCATTCCTGGAACT | XP_011535274.1:n.868+68_868+69insATGCACAGCATTCCTGGAACT | |
| XM_011536973.2:c.856+68_856+69insATGCACAGCATTCCTGGAACT | XP_011535275.1:n.856+68_856+69insATGCACAGCATTCCTGGAACT | |
| XM_011536974.2:c.856+68_856+69insATGCACAGCATTCCTGGAACT | XP_011535276.1:n.856+68_856+69insATGCACAGCATTCCTGGAACT | |
| NM_000021.4:c.868+68_868+69insATGCACAGCATTCCTGGAACT MANE Select | NP_000012.1:n.868+68_868+69insATGCACAGCATTCCTGGAACT | |
| NM_007318.3:c.856+68_856+69insATGCACAGCATTCCTGGAACT | NP_015557.2:n.856+68_856+69insATGCACAGCATTCCTGGAACT |