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_000006.12:g.152140245_152140246insGGAGGTGAGGAGAGCATTCTCACTC , CM000668.2:g.152140245_152140246insGGAGGTGAGGAGAGCATTCTCACTC | GRCh38 |
| NC_000006.11:g.152461380_152461381insGGAGGTGAGGAGAGCATTCTCACTC , CM000668.1:g.152461380_152461381insGGAGGTGAGGAGAGCATTCTCACTC | GRCh37 |
| NC_000006.10:g.152503073_152503074insGGAGGTGAGGAGAGCATTCTCACTC | NCBI36 |
| NG_012855.1:g.502154_502155insGAGTGAGAATGCTCTCCTCACCTCC | |
| NG_012855.2:g.502154_502155insGAGTGAGAATGCTCTCCTCACCTCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.1781-85_1781-84insGAGTGAGAATGCTCTCCTCACCTCC MANE Plus Clinical | ENSP00000346701.4:n.1781-85_1781-84insGAGTGAGAATGCTCTCCTCACCT... | |
| ENST00000367255.10:c.25247-85_25247-84insGAGTGAGAATGCTCTCCTCACCTCC MANE Select | ENSP00000356224.5:n.25247-85_25247-84insGAGTGAGAATGCTCTCCTCAC... | |
| ENST00000423061.6:c.25103-85_25103-84insGAGTGAGAATGCTCTCCTCACCTCC | ENSP00000396024.1:n.25103-85_25103-84insGAGTGAGAATGCTCTCCTCAC... | |
| ENST00000672154.1:c.649-85_649-84insGAGTGAGAATGCTCTCCTCACCTCC | ||
| ENST00000672169.1:c.982-85_982-84insGAGTGAGAATGCTCTCCTCACCTCC | ||
| ENST00000673173.1:c.891-85_891-84insGAGTGAGAATGCTCTCCTCACCTCC | ||
| ENST00000673451.1:c.1019-85_1019-84insGAGTGAGAATGCTCTCCTCACCTCC | ENSP00000500189.1:n.1019-85_1019-84insGAGTGAGAATGCTCTCCTCACCT... | |
| ENST00000341594.9:c.24032-85_24032-84insGAGTGAGAATGCTCTCCTCACCTCC | ENSP00000341887.6:n.24032-85_24032-84insGAGTGAGAATGCTCTCCTCAC... | |
| ENST00000347037.9:n.1995-85_1995-84insGAGTGAGAATGCTCTCCTCACCTCC | ||
| ENST00000354674.4:c.1781-85_1781-84insGAGTGAGAATGCTCTCCTCACCTCC | ENSP00000346701.4:n.1781-85_1781-84insGAGTGAGAATGCTCTCCTCACCT... | |
| ENST00000367251.7:c.4082-85_4082-84insGAGTGAGAATGCTCTCCTCACCTCC | ENSP00000356220.3:n.4082-85_4082-84insGAGTGAGAATGCTCTCCTCACCT... | |
| ENST00000367255.9:c.25247-85_25247-84insGAGTGAGAATGCTCTCCTCACCTCC | ENSP00000356224.5:n.25247-85_25247-84insGAGTGAGAATGCTCTCCTCAC... | |
| ENST00000367256.9:n.8939-85_8939-84insGAGTGAGAATGCTCTCCTCACCTCC | ||
| ENST00000367257.8:c.3185-85_3185-84insGAGTGAGAATGCTCTCCTCACCTCC | ENSP00000356226.4:n.3185-85_3185-84insGAGTGAGAATGCTCTCCTCACCT... | |
| ENST00000409694.6:n.8831-85_8831-84insGAGTGAGAATGCTCTCCTCACCTCC | ||
| ENST00000423061.5:c.25103-85_25103-84insGAGTGAGAATGCTCTCCTCACCTCC | ENSP00000396024.1:n.25103-85_25103-84insGAGTGAGAATGCTCTCCTCAC... | |
| ENST00000460912.6:n.1861-85_1861-84insGAGTGAGAATGCTCTCCTCACCTCC | ||
| ENST00000478916.5:n.4269-85_4269-84insGAGTGAGAATGCTCTCCTCACCTCC | ||
| ENST00000536990.5:n.2084-85_2084-84insGAGTGAGAATGCTCTCCTCACCTCC | ||
| ENST00000539504.5:c.1712-85_1712-84insGAGTGAGAATGCTCTCCTCACCTCC | ENSP00000441052.1:n.1712-85_1712-84insGAGTGAGAATGCTCTCCTCACCT... | |
| NM_033071.3:c.25103-85_25103-84insGAGTGAGAATGCTCTCCTCACCTCC | NP_149062.1:n.25103-85_25103-84insGAGTGAGAATGCTCTCCTCACCTCC | |
| NM_182961.3:c.25247-85_25247-84insGAGTGAGAATGCTCTCCTCACCTCC | NP_892006.3:n.25247-85_25247-84insGAGTGAGAATGCTCTCCTCACCTCC | |
| XM_006715407.1:c.25352-85_25352-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_006715470.1:n.25352-85_25352-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_006715408.1:c.25340-85_25340-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_006715471.1:n.25340-85_25340-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_006715409.1:c.25331-85_25331-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_006715472.1:n.25331-85_25331-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_006715410.1:c.25352-85_25352-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_006715473.1:n.25352-85_25352-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_006715411.1:c.25301-85_25301-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_006715474.1:n.25301-85_25301-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_006715412.1:c.25337-85_25337-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_006715475.1:n.25337-85_25337-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_006715413.1:c.25283-85_25283-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_006715476.1:n.25283-85_25283-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_006715414.1:c.25280-85_25280-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_006715477.1:n.25280-85_25280-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_006715415.1:c.25283-85_25283-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_006715478.1:n.25283-85_25283-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_006715416.1:c.25268-85_25268-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_006715479.1:n.25268-85_25268-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_006715417.1:c.25211-85_25211-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_006715480.1:n.25211-85_25211-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_006715420.1:c.25199-85_25199-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_006715483.1:n.25199-85_25199-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_006715421.1:c.25196-85_25196-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_006715484.1:n.25196-85_25196-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_006715422.1:c.25193-85_25193-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_006715485.1:n.25193-85_25193-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_006715423.1:c.25352-85_25352-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_006715486.1:n.25352-85_25352-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_006715424.1:c.25352-85_25352-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_006715487.1:n.25352-85_25352-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_006715425.1:c.25283-85_25283-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_006715488.1:n.25283-85_25283-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_011535641.1:c.25349-85_25349-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_011533943.1:n.25349-85_25349-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_011535642.1:c.25337-85_25337-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_011533944.1:n.25337-85_25337-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_011535643.1:c.25187-85_25187-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_011533945.1:n.25187-85_25187-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_011535644.1:c.23627-85_23627-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_011533946.1:n.23627-85_23627-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_011535645.1:c.23120-85_23120-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_011533947.1:n.23120-85_23120-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_011535647.1:c.18587-85_18587-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_011533949.1:n.18587-85_18587-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| NM_001347701.1:c.1853-85_1853-84insGAGTGAGAATGCTCTCCTCACCTCC | NP_001334630.1:n.1853-85_1853-84insGAGTGAGAATGCTCTCCTCACCTCC | |
| NM_001347702.1:c.1781-85_1781-84insGAGTGAGAATGCTCTCCTCACCTCC | NP_001334631.1:n.1781-85_1781-84insGAGTGAGAATGCTCTCCTCACCTCC | |
| XM_006715408.2:c.25340-85_25340-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_006715471.1:n.25340-85_25340-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_006715410.2:c.25352-85_25352-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_006715473.1:n.25352-85_25352-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_006715412.2:c.25337-85_25337-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_006715475.1:n.25337-85_25337-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_006715413.2:c.25283-85_25283-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_006715476.1:n.25283-85_25283-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_006715415.2:c.25283-85_25283-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_006715478.1:n.25283-85_25283-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_006715416.2:c.25268-85_25268-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_006715479.1:n.25268-85_25268-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_006715417.2:c.25211-85_25211-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_006715480.1:n.25211-85_25211-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_006715420.2:c.25199-85_25199-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_006715483.1:n.25199-85_25199-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_006715421.2:c.25196-85_25196-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_006715484.1:n.25196-85_25196-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_006715423.2:c.25352-85_25352-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_006715486.1:n.25352-85_25352-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_006715424.2:c.25352-85_25352-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_006715487.1:n.25352-85_25352-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_006715425.2:c.25283-85_25283-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_006715488.1:n.25283-85_25283-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_011535641.2:c.25349-85_25349-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_011533943.1:n.25349-85_25349-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_011535642.2:c.25337-85_25337-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_011533944.1:n.25337-85_25337-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_011535645.2:c.23120-85_23120-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_011533947.1:n.23120-85_23120-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_017010608.1:c.25352-85_25352-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_016866097.1:n.25352-85_25352-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_017010609.1:c.25352-85_25352-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_016866098.1:n.25352-85_25352-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_017010610.1:c.25331-85_25331-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_016866099.1:n.25331-85_25331-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_017010611.2:c.25325-85_25325-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_016866100.1:n.25325-85_25325-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_017010612.1:c.25274-85_25274-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_016866101.1:n.25274-85_25274-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_017010613.1:c.25280-85_25280-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_016866102.1:n.25280-85_25280-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_017010614.1:c.25196-85_25196-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_016866103.1:n.25196-85_25196-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_017010615.1:c.25127-85_25127-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_016866104.1:n.25127-85_25127-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_017010616.1:c.25283-85_25283-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_016866105.1:n.25283-85_25283-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_017010617.1:c.25280-85_25280-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_016866106.1:n.25280-85_25280-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_017010618.1:c.25268-85_25268-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_016866107.1:n.25268-85_25268-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| XM_017010619.1:c.23627-85_23627-84insGAGTGAGAATGCTCTCCTCACCTCC | XP_016866108.1:n.23627-85_23627-84insGAGTGAGAATGCTCTCCTCACCTC... | |
| NM_182961.4:c.25247-85_25247-84insGAGTGAGAATGCTCTCCTCACCTCC MANE Select | NP_892006.3:n.25247-85_25247-84insGAGTGAGAATGCTCTCCTCACCTCC | |
| NM_001347701.2:c.1853-85_1853-84insGAGTGAGAATGCTCTCCTCACCTCC | NP_001334630.1:n.1853-85_1853-84insGAGTGAGAATGCTCTCCTCACCTCC | |
| NM_001347702.2:c.1781-85_1781-84insGAGTGAGAATGCTCTCCTCACCTCC MANE Plus Clinical | NP_001334631.1:n.1781-85_1781-84insGAGTGAGAATGCTCTCCTCACCTCC | |
| NM_033071.5:c.25103-85_25103-84insGAGTGAGAATGCTCTCCTCACCTCC | NP_149062.2:n.25103-85_25103-84insGAGTGAGAATGCTCTCCTCACCTCC |