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 allow 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 allow 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_000003.12:g.36993802C= , CM000665.2:g.36993802C= | GRCh38 |
| NC_000003.11:g.37035293C= , CM000665.1:g.37035293C= | GRCh37 |
| NC_000003.10:g.37010297C= | NCBI36 |
| NG_007109.2:g.5453C= , LRG_216:g.5453C= | |
| NG_008418.1:g.4503G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413740.2:c.116+139C= | ENSP00000416476.2:n.116+139C= | |
| ENST00000450420.6:c.116+139C= | ENSP00000393006.2:n.116+139C= | |
| ENST00000456676.7:c.116+139C= | ENSP00000416687.3:n.116+139C= | |
| ENST00000458009.6:c.116+139C= | ENSP00000411066.2:n.116+139C= | |
| ENST00000492474.6:c.-770C= | ENSP00000518393.1:n.-770C= | |
| ENST00000616768.6:c.116+139C= | ENSP00000480669.3:n.116+139C= | |
| ENST00000673673.2:c.116+139C= | ENSP00000500979.2:n.116+139C= | |
| ENST00000231790.8:c.116+139C= MANE Select | ENSP00000231790.3:n.116+139C= | |
| ENST00000413212.2:c.-696C= | ENSP00000400844.2:n.-696C= | |
| ENST00000432299.6:c.*108C= | ENSP00000416783.1:n.*108C= | |
| ENST00000442249.6:n.131+139C= | ||
| ENST00000447829.6:c.-262C= | ENSP00000399329.2:n.-262C= | |
| ENST00000476172.6:n.18C= | ||
| ENST00000673673.1:c.69+139C= | ||
| ENST00000673686.1:n.18C= | ||
| ENST00000673713.1:n.147+139C= | ||
| ENST00000673715.1:c.116+139C= | ENSP00000501301.1:n.116+139C= | |
| ENST00000673897.1:c.116+139C= | ENSP00000501109.1:n.116+139C= | |
| ENST00000673899.1:c.116+139C= | ENSP00000501030.1:n.116+139C= | |
| ENST00000673947.1:c.116+139C= | ENSP00000501304.1:n.116+139C= | |
| ENST00000673972.1:c.116+139C= | ENSP00000501281.1:n.116+139C= | |
| ENST00000673990.1:n.18C= | ||
| ENST00000674019.1:c.-820C= | ENSP00000501081.1:n.-820C= | |
| ENST00000674111.1:c.116+139C= | ENSP00000501162.1:n.116+139C= | |
| ENST00000231790.6:c.116+139C= | ENSP00000231790.2:n.116+139C= | |
| ENST00000432299.5:c.*108C= | ENSP00000416783.1:n.*108C= | |
| ENST00000442249.5:c.116+139C= | ENSP00000387511.1:n.116+139C= | |
| ENST00000454028.5:c.116+139C= | ENSP00000392649.1:n.116+139C= | |
| ENST00000455445.6:c.-691C= | ENSP00000398272.2:n.-691C= | |
| ENST00000456676.6:c.91+139C= | ||
| ENST00000457004.5:c.116+139C= | ENSP00000407773.1:n.116+139C= | |
| ENST00000458205.6:c.-841C= | ENSP00000402667.2:n.-841C= | |
| ENST00000476172.5:n.26C= | ||
| ENST00000536378.5:c.-517+139C= | ENSP00000444286.2:n.-517+139C= | |
| ENST00000539477.5:c.-604C= | ENSP00000443665.1:n.-604C= | |
| NM_000249.3:c.116+139C= , LRG_216t1:c.116+139C= | NP_000240.1:n.116+139C= | |
| NM_001167617.1:c.-262C= | NP_001161089.1:n.-262C= | |
| NM_001167618.1:c.-691C= | NP_001161090.1:n.-691C= | |
| NM_001167619.1:c.-604C= | NP_001161091.1:n.-604C= | |
| NM_001258271.1:c.116+139C= | NP_001245200.1:n.116+139C= | |
| NM_001258273.1:c.-517+139C= | NP_001245202.1:n.-517+139C= | |
| NM_001258274.1:c.-841C= | NP_001245203.1:n.-841C= | |
| XM_005265161.1:c.116+139C= | XP_005265218.1:n.116+139C= | |
| XM_005265163.1:c.-696C= | XP_005265220.1:n.-696C= | |
| XM_005265164.1:c.-603+139C= | XP_005265221.1:n.-603+139C= | |
| XM_005265166.1:c.-902C= | XP_005265223.1:n.-902C= | |
| XM_011533727.1:c.-799C= | XP_011532029.1:n.-799C= | |
| NM_001167617.2:c.-262C= | NP_001161089.1:n.-262C= | |
| NM_001167618.2:c.-691C= | NP_001161090.1:n.-691C= | |
| NM_001167619.2:c.-604C= | NP_001161091.1:n.-604C= | |
| NM_001258274.2:c.-841C= | NP_001245203.1:n.-841C= | |
| NM_001354615.1:c.-511+139C= | NP_001341544.1:n.-511+139C= | |
| NM_001354616.1:c.-511+139C= | NP_001341545.1:n.-511+139C= | |
| NM_001354617.1:c.-603+139C= | NP_001341546.1:n.-603+139C= | |
| NM_001354618.1:c.-696C= | NP_001341547.1:n.-696C= | |
| NM_001354619.1:c.-820C= | NP_001341548.1:n.-820C= | |
| NM_001354620.1:c.-169+139C= | NP_001341549.1:n.-169+139C= | |
| NM_001354621.1:c.-789C= | NP_001341550.1:n.-789C= | |
| NM_001354622.1:c.-902C= | NP_001341551.1:n.-902C= | |
| NM_001354623.1:c.-811C= | NP_001341552.1:n.-811C= | |
| NM_001354624.1:c.-711+139C= | NP_001341553.1:n.-711+139C= | |
| NM_001354625.1:c.-609+139C= | NP_001341554.1:n.-609+139C= | |
| NM_001354626.1:c.-706+139C= | NP_001341555.1:n.-706+139C= | |
| NM_001354627.1:c.-799C= | NP_001341556.1:n.-799C= | |
| NM_001354628.1:c.116+139C= | NP_001341557.1:n.116+139C= | |
| NM_001354629.1:c.116+139C= | NP_001341558.1:n.116+139C= | |
| NM_001354630.1:c.116+139C= | NP_001341559.1:n.116+139C= | |
| XM_005265161.2:c.116+139C= | XP_005265218.1:n.116+139C= | |
| XM_017006450.2:c.-696+139C= | XP_016861939.1:n.-696+139C= | |
| NM_000249.4:c.116+139C= MANE Select | NP_000240.1:n.116+139C= | |
| NM_001167617.3:c.-262C= | NP_001161089.1:n.-262C= | |
| NM_001167618.3:c.-691C= | NP_001161090.1:n.-691C= | |
| NM_001167619.3:c.-604C= | NP_001161091.1:n.-604C= | |
| NM_001258271.2:c.116+139C= | NP_001245200.1:n.116+139C= | |
| NM_001258273.2:c.-517+139C= | NP_001245202.1:n.-517+139C= | |
| NM_001258274.3:c.-841C= | NP_001245203.1:n.-841C= | |
| NM_001354615.2:c.-511+139C= | NP_001341544.1:n.-511+139C= | |
| NM_001354616.2:c.-511+139C= | NP_001341545.1:n.-511+139C= | |
| NM_001354617.2:c.-603+139C= | NP_001341546.1:n.-603+139C= | |
| NM_001354618.2:c.-696C= | NP_001341547.1:n.-696C= | |
| NM_001354619.2:c.-820C= | NP_001341548.1:n.-820C= | |
| NM_001354620.2:c.-169+139C= | NP_001341549.1:n.-169+139C= | |
| NM_001354621.2:c.-789C= | NP_001341550.1:n.-789C= | |
| NM_001354622.2:c.-902C= | NP_001341551.1:n.-902C= | |
| NM_001354623.2:c.-811C= | NP_001341552.1:n.-811C= | |
| NM_001354624.2:c.-711+139C= | NP_001341553.1:n.-711+139C= | |
| NM_001354625.2:c.-609+139C= | NP_001341554.1:n.-609+139C= | |
| NM_001354626.2:c.-706+139C= | NP_001341555.1:n.-706+139C= | |
| NM_001354627.2:c.-799C= | NP_001341556.1:n.-799C= | |
| NM_001354628.2:c.116+139C= | NP_001341557.1:n.116+139C= | |
| NM_001354629.2:c.116+139C= | NP_001341558.1:n.116+139C= | |
| NM_001354630.2:c.116+139C= | NP_001341559.1:n.116+139C= |