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.92071010delinsGCTGCTGCTGCTGCTGCTGCTGCTGCTG , CM000676.2:g.92071010delinsGCTGCTGCTGCTGCTGCTGCTGCTGCTG | GRCh38 |
| NC_000014.8:g.92537354delinsGCTGCTGCTGCTGCTGCTGCTGCTGCTG , CM000676.1:g.92537354delinsGCTGCTGCTGCTGCTGCTGCTGCTGCTG | GRCh37 |
| NC_000014.7:g.91607107delinsGCTGCTGCTGCTGCTGCTGCTGCTGCTG | NCBI36 |
| NG_008198.2:g.40612delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359366.10:c.*590delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000352324.5:n.*590delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | |
| ENST00000557030.6:c.*111delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000452139.1:n.*111delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | |
| ENST00000557311.6:c.379delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000450642.2:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnAr... | |
| ENST00000644486.2:c.916delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC MANE Select | ENSP00000496695.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnAr... | |
| ENST00000647161.1:c.916delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000493680.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnAr... | |
| ENST00000340660.10:c.751delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000339110.6:p.Gly251delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnAr... | |
| ENST00000359366.9:c.*590delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000352324.5:n.*590delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | |
| ENST00000393287.9:c.763delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000376965.6:p.Gly255delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnAr... | |
| ENST00000429774.6:c.706delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000389376.3:p.Gly236delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnAr... | |
| ENST00000502250.5:c.379delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000425322.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnAr... | |
| ENST00000503767.5:c.871delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000426697.1:p.Gly291delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnAr... | |
| ENST00000526245.1:n.117-12223delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| ENST00000532032.5:c.916delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000437157.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnAr... | |
| ENST00000545170.5:c.943delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000445618.2:p.Gly315delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnAr... | |
| ENST00000553287.5:n.654delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| ENST00000553309.5:n.950delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| ENST00000553488.5:c.*731delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000452461.1:n.*731delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | |
| ENST00000553491.5:c.763delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000451996.1:p.Gly255delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnAr... | |
| ENST00000553498.5:n.839delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| ENST00000553570.5:c.*375delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000451405.1:n.*375delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | |
| ENST00000553686.5:n.797delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| ENST00000554040.5:n.520delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| ENST00000554214.5:n.699delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| ENST00000554350.5:c.*516delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000451103.1:n.*516delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | |
| ENST00000554491.5:n.992delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| ENST00000554592.5:c.913delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000451385.1:p.Gly305delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnAr... | |
| ENST00000554672.5:c.622delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000451417.1:p.Gly208delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnAr... | |
| ENST00000554994.5:c.*375delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000451771.1:n.*375delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | |
| ENST00000555381.5:c.706delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000451001.1:p.Gly236delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnAr... | |
| ENST00000555816.5:c.*423delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000451910.1:n.*423delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | |
| ENST00000555958.5:n.785delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| ENST00000556082.5:c.*326delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000450492.1:n.*326delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | |
| ENST00000556220.5:c.598delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000450641.1:p.Gly200delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnAr... | |
| ENST00000556274.5:c.*579delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000451733.1:n.*579delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | |
| ENST00000556288.5:c.*567delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000450566.1:n.*567delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | |
| ENST00000556315.5:c.*590delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000451132.1:n.*590delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | |
| ENST00000556339.5:n.453delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| ENST00000556374.5:c.*644delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000451399.1:n.*644delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | |
| ENST00000556644.5:n.300delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| ENST00000556671.5:c.*494delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000451693.1:n.*494delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | |
| ENST00000556898.5:c.*413delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000451769.1:n.*413delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | |
| ENST00000556958.5:c.*375delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000452532.1:n.*375delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | |
| ENST00000557030.5:c.*111delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000452139.1:n.*111delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | |
| ENST00000557311.5:c.379delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000450642.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnAr... | |
| ENST00000558190.5:c.916delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000478320.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnAr... | |
| ENST00000617719.4:c.*74delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000481998.1:n.*74delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | |
| ENST00000620536.4:c.943delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ENSP00000484016.1:p.Gly315delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnAr... | |
| ENST00000624063.1:c.31delinsGCTGCTGCTGCTGCTGCTGCTGCTGCTG | ENSP00000485197.1:p.Pro11delinsAlaAlaAlaAlaAlaAlaAlaAlaAlaAla... | |
| NM_001127696.1:c.871delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | NP_001121168.1:p.Gly291delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnArg | |
| NM_001127697.2:c.763delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | NP_001121169.2:p.Gly255delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnArg | |
| NM_001164774.1:c.233delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | NP_001158246.1:p.Gly78delinsAlaAlaAlaAlaAlaAlaAlaAlaAlaAla | |
| NM_001164776.1:c.278delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | NP_001158248.1:p.Gly93delinsAlaAlaAlaAlaAlaAlaAlaAlaAlaAla | |
| NM_001164777.1:c.113delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | NP_001158249.1:p.Gly38delinsAlaAlaAlaAlaAlaAlaAlaAlaAlaAla | |
| NM_001164778.1:c.431delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | NP_001158250.1:p.Gly144delinsAlaAlaAlaAlaAlaAlaAlaAlaAlaAla | |
| NM_001164779.1:c.553delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | NP_001158251.1:p.Gly185delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnArg | |
| NM_001164780.1:c.379delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | NP_001158252.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnArg | |
| NM_001164781.1:c.706delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | NP_001158253.1:p.Gly236delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnArg | |
| NM_001164782.1:c.68delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | NP_001158254.1:p.Gly23delinsAlaAlaAlaAlaAlaAlaAlaAlaAlaAla | |
| NM_004993.5:c.916delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | NP_004984.2:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnArg | |
| NM_030660.4:c.751delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | NP_109376.1:p.Gly251delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnArg | |
| NR_028453.1:n.899delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028454.1:n.734delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028455.1:n.953delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028456.1:n.788delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028457.1:n.1044delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028458.1:n.888delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028459.1:n.1039delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028460.1:n.414delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028461.1:n.897delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028462.1:n.876delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028463.1:n.588delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028464.1:n.886delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028465.1:n.908delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028466.1:n.534delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028467.1:n.900delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028468.1:n.732delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028469.1:n.746delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028470.1:n.204delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_031765.1:n.401delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NM_001127696.2:c.871delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | NP_001121168.1:p.Gly291delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnArg | |
| NM_001164774.2:c.233delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | NP_001158246.1:p.Gly78delinsAlaAlaAlaAlaAlaAlaAlaAlaAlaAla | |
| NM_001164776.2:c.278delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | NP_001158248.1:p.Gly93delinsAlaAlaAlaAlaAlaAlaAlaAlaAlaAla | |
| NM_001164777.2:c.113delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | NP_001158249.1:p.Gly38delinsAlaAlaAlaAlaAlaAlaAlaAlaAlaAla | |
| NM_001164778.2:c.431delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | NP_001158250.1:p.Gly144delinsAlaAlaAlaAlaAlaAlaAlaAlaAlaAla | |
| NM_001164779.2:c.553delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | NP_001158251.1:p.Gly185delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnArg | |
| NM_001164780.2:c.379delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | NP_001158252.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnArg | |
| NM_001164782.2:c.68delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | NP_001158254.1:p.Gly23delinsAlaAlaAlaAlaAlaAlaAlaAlaAlaAla | |
| NM_004993.6:c.916delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC MANE Select | NP_004984.2:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnArg | |
| NM_030660.5:c.751delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | NP_109376.1:p.Gly251delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnArg | |
| NR_028453.2:n.860delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028454.2:n.695delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028455.2:n.914delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028456.2:n.749delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028457.2:n.1005delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028458.2:n.849delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028459.2:n.1000delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028460.2:n.375delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028461.2:n.858delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028462.2:n.837delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028463.2:n.549delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028464.2:n.847delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028465.2:n.869delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028466.2:n.495delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028467.2:n.861delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028468.2:n.693delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028469.2:n.707delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_028470.2:n.165delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NR_031765.2:n.362delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | ||
| NM_001127697.3:c.763delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | NP_001121169.2:p.Gly255delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnArg | |
| NM_001164781.2:c.706delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC | NP_001158253.1:p.Gly236delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnArg |