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_000016.10:g.2081797_2081798delinsTGCCTCGCTCCAACAC , CM000678.2:g.2081797_2081798delinsTGCCTCGCTCCAACAC | GRCh38 |
| NC_000016.9:g.2131798_2131799delinsTGCCTCGCTCCAACAC , CM000678.1:g.2131798_2131799delinsTGCCTCGCTCCAACAC | GRCh37 |
| NC_000016.8:g.2071799_2071800delinsTGCCTCGCTCCAACAC | NCBI36 |
| NG_005895.1:g.37492_37493delinsTGCCTCGCTCCAACAC , LRG_487:g.37492_37493delinsTGCCTCGCTCCAACAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2231_*2232delinsTGCCTCGCTCCAACAC | ENSP00000455997.2:n.*2231_*2232delinsTGCCTCGCTCCAACAC | |
| ENST00000642206.2:c.3729_3730delinsTGCCTCGCTCCAACAC | ENSP00000495146.2:p.Asp1244AlafsTer35 | |
| ENST00000642365.2:c.3810_3811delinsTGCCTCGCTCCAACAC | ENSP00000495459.2:p.Val1271AlafsTer? | |
| ENST00000644417.2:c.*4262_*4263delinsTGCCTCGCTCCAACAC | ENSP00000493912.2:n.*4262_*4263delinsTGCCTCGCTCCAACAC | |
| ENST00000646464.2:c.*4735_*4736delinsTGCCTCGCTCCAACAC | ENSP00000496610.2:n.*4735_*4736delinsTGCCTCGCTCCAACAC | |
| ENST00000219476.9:c.3813_3814delinsTGCCTCGCTCCAACAC MANE Select | ENSP00000219476.3:p.Val1272AlafsTer? | |
| ENST00000350773.9:c.3813_3814delinsTGCCTCGCTCCAACAC | ENSP00000344383.4:p.Asp1272AlafsTer35 | |
| ENST00000401874.7:c.3681_3682delinsTGCCTCGCTCCAACAC | ENSP00000384468.2:p.Asp1228AlafsTer35 | |
| ENST00000568454.6:c.3714_3715delinsTGCCTCGCTCCAACAC | ENSP00000454487.1:p.Asp1239AlafsTer35 | |
| ENST00000642365.1:c.2467_2468delinsTGCCTCGCTCCAACAC | ||
| ENST00000642561.1:c.3684_3685delinsTGCCTCGCTCCAACAC | ENSP00000495099.1:p.Val1229AlafsTer? | |
| ENST00000642797.1:c.3684_3685delinsTGCCTCGCTCCAACAC | ENSP00000493846.1:p.Asp1229AlafsTer35 | |
| ENST00000642936.1:c.3681_3682delinsTGCCTCGCTCCAACAC | ENSP00000494514.1:p.Val1228AlafsTer? | |
| ENST00000643088.1:c.3681_3682delinsTGCCTCGCTCCAACAC | ENSP00000494747.1:p.Asp1228AlafsTer35 | |
| ENST00000643426.1:n.1461_1462delinsTGCCTCGCTCCAACAC | ||
| ENST00000643533.1:n.323_324delinsTGCCTCGCTCCAACAC | ||
| ENST00000643946.1:c.3813_3814delinsTGCCTCGCTCCAACAC | ENSP00000495927.1:p.Asp1272AlafsTer35 | |
| ENST00000644043.1:c.3684_3685delinsTGCCTCGCTCCAACAC | ENSP00000496262.1:p.Val1229AlafsTer? | |
| ENST00000644329.1:c.3681_3682delinsTGCCTCGCTCCAACAC | ENSP00000496611.1:p.Asp1228AlafsTer35 | |
| ENST00000644335.1:c.3684_3685delinsTGCCTCGCTCCAACAC | ENSP00000496317.1:p.Asp1229AlafsTer35 | |
| ENST00000644399.1:c.3803_3804delinsTGCCTCGCTCCAACAC | ||
| ENST00000644722.1:n.959_960delinsTGCCTCGCTCCAACAC | ||
| ENST00000645024.1:n.1966_1967delinsTGCCTCGCTCCAACAC | ||
| ENST00000646388.1:c.3813_3814delinsTGCCTCGCTCCAACAC | ENSP00000495921.1:p.Val1272AlafsTer? | |
| ENST00000646634.1:n.2697_2698delinsTGCCTCGCTCCAACAC | ||
| ENST00000646674.1:n.428_429delinsTGCCTCGCTCCAACAC | ||
| ENST00000647042.1:n.1105_1106delinsTGCCTCGCTCCAACAC | ||
| ENST00000647180.1:n.293_294delinsTGCCTCGCTCCAACAC | ||
| ENST00000219476.7:c.3813_3814delinsTGCCTCGCTCCAACAC | ENSP00000219476.3:p.Val1272AlafsTer? | |
| ENST00000350773.8:c.3813_3814delinsTGCCTCGCTCCAACAC | ENSP00000344383.4:p.Asp1272AlafsTer35 | |
| ENST00000382538.10:c.3537_3538delinsTGCCTCGCTCCAACAC | ENSP00000371978.6:p.Asp1180AlafsTer35 | |
| ENST00000401874.6:c.3681_3682delinsTGCCTCGCTCCAACAC | ENSP00000384468.2:p.Asp1228AlafsTer35 | |
| ENST00000439117.6:c.*2980_*2981delinsTGCCTCGCTCCAACAC | ENSP00000406980.2:n.*2980_*2981delinsTGCCTCGCTCCAACAC | |
| ENST00000439673.6:c.3573_3574delinsTGCCTCGCTCCAACAC | ENSP00000399232.2:p.Asp1192AlafsTer35 | |
| ENST00000497886.5:n.1640_1641delinsTGCCTCGCTCCAACAC | ||
| ENST00000568454.5:c.3714_3715delinsTGCCTCGCTCCAACAC | ENSP00000454487.1:p.Asp1239AlafsTer35 | |
| NM_000548.3:c.3813_3814delinsTGCCTCGCTCCAACAC , LRG_487t1:c.3813_3814delinsTGCCTCGCTCCAACAC | NP_000539.2:p.Val1272AlafsTer? | |
| NM_001077183.1:c.3681_3682delinsTGCCTCGCTCCAACAC | NP_001070651.1:p.Asp1228AlafsTer35 | |
| NM_001114382.1:c.3813_3814delinsTGCCTCGCTCCAACAC | NP_001107854.1:p.Asp1272AlafsTer35 | |
| XM_005255529.3:c.3684_3685delinsTGCCTCGCTCCAACAC | XP_005255586.2:p.Val1229AlafsTer? | |
| XM_005255531.3:c.3684_3685delinsTGCCTCGCTCCAACAC | XP_005255588.2:p.Asp1229AlafsTer35 | |
| XM_011522636.1:c.3813_3814delinsTGCCTCGCTCCAACAC | XP_011520938.1:p.Val1272AlafsTer? | |
| XM_011522637.1:c.3810_3811delinsTGCCTCGCTCCAACAC | XP_011520939.1:p.Val1271AlafsTer? | |
| XM_011522638.1:c.3702_3703delinsTGCCTCGCTCCAACAC | XP_011520940.1:p.Val1235AlafsTer? | |
| XM_011522639.1:c.3684_3685delinsTGCCTCGCTCCAACAC | XP_011520941.1:p.Val1229AlafsTer? | |
| XM_011522640.1:c.3681_3682delinsTGCCTCGCTCCAACAC | XP_011520942.1:p.Val1228AlafsTer? | |
| XM_011522641.1:c.3573_3574delinsTGCCTCGCTCCAACAC | XP_011520943.1:p.Asp1192AlafsTer35 | |
| NM_000548.4:c.3813_3814delinsTGCCTCGCTCCAACAC | NP_000539.2:p.Val1272AlafsTer? | |
| NM_001077183.2:c.3681_3682delinsTGCCTCGCTCCAACAC | NP_001070651.1:p.Asp1228AlafsTer35 | |
| NM_001114382.2:c.3813_3814delinsTGCCTCGCTCCAACAC | NP_001107854.1:p.Asp1272AlafsTer35 | |
| NM_001318827.1:c.3573_3574delinsTGCCTCGCTCCAACAC | NP_001305756.1:p.Asp1192AlafsTer35 | |
| NM_001318829.1:c.3537_3538delinsTGCCTCGCTCCAACAC | NP_001305758.1:p.Asp1180AlafsTer35 | |
| NM_001318831.1:c.3081_3082delinsTGCCTCGCTCCAACAC | NP_001305760.1:p.Val1028AlafsTer? | |
| NM_001318832.1:c.3714_3715delinsTGCCTCGCTCCAACAC | NP_001305761.1:p.Asp1239AlafsTer35 | |
| NM_001363528.1:c.3684_3685delinsTGCCTCGCTCCAACAC | NP_001350457.1:p.Asp1229AlafsTer35 | |
| NM_021055.2:c.3684_3685delinsTGCCTCGCTCCAACAC | NP_066399.2:p.Val1229AlafsTer? | |
| XM_005255531.4:c.3684_3685delinsTGCCTCGCTCCAACAC | XP_005255588.2:p.Asp1229AlafsTer35 | |
| XM_011522636.2:c.3813_3814delinsTGCCTCGCTCCAACAC | XP_011520938.1:p.Val1272AlafsTer? | |
| XM_011522637.2:c.3810_3811delinsTGCCTCGCTCCAACAC | XP_011520939.1:p.Val1271AlafsTer? | |
| XM_011522638.2:c.3975_3976delinsTGCCTCGCTCCAACAC | XP_011520940.2:p.Val1326AlafsTer? | |
| XM_011522639.2:c.3684_3685delinsTGCCTCGCTCCAACAC | XP_011520941.1:p.Val1229AlafsTer? | |
| XM_011522640.2:c.3681_3682delinsTGCCTCGCTCCAACAC | XP_011520942.1:p.Val1228AlafsTer? | |
| XM_017023615.1:c.3810_3811delinsTGCCTCGCTCCAACAC | XP_016879104.1:p.Val1271AlafsTer? | |
| XM_017023616.1:c.3681_3682delinsTGCCTCGCTCCAACAC | XP_016879105.1:p.Val1228AlafsTer? | |
| XM_017023617.1:c.3846_3847delinsTGCCTCGCTCCAACAC | XP_016879106.1:p.Asp1283AlafsTer35 | |
| XM_017023618.1:c.2469_2470delinsTGCCTCGCTCCAACAC | XP_016879107.1:p.Val824AlafsTer? | |
| XM_024450413.1:c.3681_3682delinsTGCCTCGCTCCAACAC | XP_024306181.1:p.Asp1228AlafsTer35 | |
| NM_000548.5:c.3813_3814delinsTGCCTCGCTCCAACAC MANE Select | NP_000539.2:p.Val1272AlafsTer? | |
| NM_001370404.1:c.3681_3682delinsTGCCTCGCTCCAACAC | NP_001357333.1:p.Val1228AlafsTer? | |
| NM_001370405.1:c.3684_3685delinsTGCCTCGCTCCAACAC | NP_001357334.1:p.Val1229AlafsTer? | |
| NM_001077183.3:c.3681_3682delinsTGCCTCGCTCCAACAC | NP_001070651.1:p.Asp1228AlafsTer35 | |
| NM_001114382.3:c.3813_3814delinsTGCCTCGCTCCAACAC | NP_001107854.1:p.Asp1272AlafsTer35 | |
| NM_001318827.2:c.3573_3574delinsTGCCTCGCTCCAACAC | NP_001305756.1:p.Asp1192AlafsTer35 | |
| NM_001318829.2:c.3537_3538delinsTGCCTCGCTCCAACAC | NP_001305758.1:p.Asp1180AlafsTer35 | |
| NM_001318831.2:c.3081_3082delinsTGCCTCGCTCCAACAC | NP_001305760.1:p.Val1028AlafsTer? | |
| NM_001318832.2:c.3714_3715delinsTGCCTCGCTCCAACAC | NP_001305761.1:p.Asp1239AlafsTer35 | |
| NM_001363528.2:c.3684_3685delinsTGCCTCGCTCCAACAC | NP_001350457.1:p.Asp1229AlafsTer35 | |
| NM_021055.3:c.3684_3685delinsTGCCTCGCTCCAACAC | NP_066399.2:p.Val1229AlafsTer? |