OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
Linked Data
dbSNP Id:
rs1190909750
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37050293_37050296del , CM000665.2:g.37050293_37050296del | GRCh38 |
| NC_000003.11:g.37091784_37091787del , CM000665.1:g.37091784_37091787del | GRCh37 |
| NC_000003.10:g.37066788_37066791del | NCBI36 |
| NG_007109.2:g.61944_61947del , LRG_216:g.61944_61947del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413740.2:c.1668-193_1668-190del | ENSP00000416476.2:n.1668-193_1668-190del | |
| ENST00000429117.6:c.1810-193_1810-190del | ENSP00000407019.2:n.1810-193_1810-190del | |
| ENST00000450420.6:c.1559-193_1559-190del | ENSP00000393006.2:n.1559-193_1559-190del | |
| ENST00000456676.7:c.1897-193_1897-190del | ENSP00000416687.3:n.1897-193_1897-190del | |
| ENST00000492474.6:c.1381-193_1381-190del | ENSP00000518393.1:n.1381-193_1381-190del | |
| ENST00000616768.6:c.2011-193_2011-190del | ENSP00000480669.3:n.2011-193_2011-190del | |
| ENST00000673673.2:c.1939-193_1939-190del | ENSP00000500979.2:n.1939-193_1939-190del | |
| ENST00000231790.8:c.2104-193_2104-190del MANE Select | ENSP00000231790.3:n.2104-193_2104-190del | |
| ENST00000413212.2:c.*1022-193_*1022-190del | ENSP00000400844.2:n.*1022-193_*1022-190del | |
| ENST00000432299.6:c.*1936-193_*1936-190del | ENSP00000416783.1:n.*1936-193_*1936-190del | |
| ENST00000447829.6:c.*1215-193_*1215-190del | ENSP00000399329.2:n.*1215-193_*1215-190del | |
| ENST00000539477.6:c.1381-193_1381-190del | ENSP00000443665.1:n.1381-193_1381-190del | |
| ENST00000616768.5:c.1048-193_1048-190del | ENSP00000480669.2:n.1048-193_1048-190del | |
| ENST00000673673.1:c.1892-193_1892-190del | ||
| ENST00000673741.1:n.1138-193_1138-190del | ||
| ENST00000673889.1:n.1486-193_1486-190del | ||
| ENST00000673897.1:c.*1896-193_*1896-190del | ENSP00000501109.1:n.*1896-193_*1896-190del | |
| ENST00000673899.1:c.1372-193_1372-190del | ENSP00000501030.1:n.1372-193_1372-190del | |
| ENST00000673947.1:c.*2244-193_*2244-190del | ENSP00000501304.1:n.*2244-193_*2244-190del | |
| ENST00000673972.1:c.*1982-193_*1982-190del | ENSP00000501281.1:n.*1982-193_*1982-190del | |
| ENST00000674019.1:c.1381-193_1381-190del | ENSP00000501081.1:n.1381-193_1381-190del | |
| ENST00000674111.1:c.*333-193_*333-190del | ENSP00000501162.1:n.*333-193_*333-190del | |
| ENST00000674125.1:n.815-193_815-190del | ||
| ENST00000231790.6:c.2104-193_2104-190del | ENSP00000231790.2:n.2104-193_2104-190del | |
| ENST00000413740.1:c.291-193_291-190del | ENSP00000416476.1:n.291-193_291-190del | |
| ENST00000435176.5:c.1810-193_1810-190del | ENSP00000402564.1:n.1810-193_1810-190del | |
| ENST00000450420.5:c.182-193_182-190del | ENSP00000393006.1:n.182-193_182-190del | |
| ENST00000455445.6:c.1381-193_1381-190del | ENSP00000398272.2:n.1381-193_1381-190del | |
| ENST00000456676.6:c.1872-193_1872-190del | ||
| ENST00000458205.6:c.1381-193_1381-190del | ENSP00000402667.2:n.1381-193_1381-190del | |
| ENST00000536378.5:c.1381-193_1381-190del | ENSP00000444286.2:n.1381-193_1381-190del | |
| ENST00000539477.5:c.1381-193_1381-190del | ENSP00000443665.1:n.1381-193_1381-190del | |
| NM_000249.3:c.2104-193_2104-190del , LRG_216t1:c.2104-193_2104-190del | NP_000240.1:n.2104-193_2104-190del | |
| NM_001167617.1:c.1810-193_1810-190del | NP_001161089.1:n.1810-193_1810-190del | |
| NM_001167618.1:c.1381-193_1381-190del | NP_001161090.1:n.1381-193_1381-190del | |
| NM_001167619.1:c.1381-193_1381-190del | NP_001161091.1:n.1381-193_1381-190del | |
| NM_001258271.1:c.1897-193_1897-190del | NP_001245200.1:n.1897-193_1897-190del | |
| NM_001258273.1:c.1381-193_1381-190del | NP_001245202.1:n.1381-193_1381-190del | |
| NM_001258274.1:c.1381-193_1381-190del | NP_001245203.1:n.1381-193_1381-190del | |
| XM_005265161.1:c.1897-193_1897-190del | XP_005265218.1:n.1897-193_1897-190del | |
| XM_005265163.1:c.1381-193_1381-190del | XP_005265220.1:n.1381-193_1381-190del | |
| XM_005265164.1:c.1381-193_1381-190del | XP_005265221.1:n.1381-193_1381-190del | |
| XM_005265166.1:c.1081-193_1081-190del | XP_005265223.1:n.1081-193_1081-190del | |
| XM_011533727.1:c.1030-193_1030-190del | XP_011532029.1:n.1030-193_1030-190del | |
| NM_001167617.2:c.1810-193_1810-190del | NP_001161089.1:n.1810-193_1810-190del | |
| NM_001167618.2:c.1381-193_1381-190del | NP_001161090.1:n.1381-193_1381-190del | |
| NM_001167619.2:c.1381-193_1381-190del | NP_001161091.1:n.1381-193_1381-190del | |
| NM_001258274.2:c.1381-193_1381-190del | NP_001245203.1:n.1381-193_1381-190del | |
| NM_001354615.1:c.1381-193_1381-190del | NP_001341544.1:n.1381-193_1381-190del | |
| NM_001354616.1:c.1381-193_1381-190del | NP_001341545.1:n.1381-193_1381-190del | |
| NM_001354617.1:c.1381-193_1381-190del | NP_001341546.1:n.1381-193_1381-190del | |
| NM_001354618.1:c.1381-193_1381-190del | NP_001341547.1:n.1381-193_1381-190del | |
| NM_001354619.1:c.1381-193_1381-190del | NP_001341548.1:n.1381-193_1381-190del | |
| NM_001354620.1:c.1810-193_1810-190del | NP_001341549.1:n.1810-193_1810-190del | |
| NM_001354621.1:c.1081-193_1081-190del | NP_001341550.1:n.1081-193_1081-190del | |
| NM_001354622.1:c.1081-193_1081-190del | NP_001341551.1:n.1081-193_1081-190del | |
| NM_001354623.1:c.1081-193_1081-190del | NP_001341552.1:n.1081-193_1081-190del | |
| NM_001354624.1:c.1030-193_1030-190del | NP_001341553.1:n.1030-193_1030-190del | |
| NM_001354625.1:c.1030-193_1030-190del | NP_001341554.1:n.1030-193_1030-190del | |
| NM_001354626.1:c.1030-193_1030-190del | NP_001341555.1:n.1030-193_1030-190del | |
| NM_001354627.1:c.1030-193_1030-190del | NP_001341556.1:n.1030-193_1030-190del | |
| NM_001354628.1:c.2011-193_2011-190del | NP_001341557.1:n.2011-193_2011-190del | |
| NM_001354629.1:c.2005-193_2005-190del | NP_001341558.1:n.2005-193_2005-190del | |
| NM_001354630.1:c.1939-193_1939-190del | NP_001341559.1:n.1939-193_1939-190del | |
| XM_005265161.2:c.1897-193_1897-190del | XP_005265218.1:n.1897-193_1897-190del | |
| XM_017006450.2:c.1081-193_1081-190del | XP_016861939.1:n.1081-193_1081-190del | |
| NM_000249.4:c.2104-193_2104-190del MANE Select | NP_000240.1:n.2104-193_2104-190del | |
| NM_001167617.3:c.1810-193_1810-190del | NP_001161089.1:n.1810-193_1810-190del | |
| NM_001167618.3:c.1381-193_1381-190del | NP_001161090.1:n.1381-193_1381-190del | |
| NM_001167619.3:c.1381-193_1381-190del | NP_001161091.1:n.1381-193_1381-190del | |
| NM_001258271.2:c.1897-193_1897-190del | NP_001245200.1:n.1897-193_1897-190del | |
| NM_001258273.2:c.1381-193_1381-190del | NP_001245202.1:n.1381-193_1381-190del | |
| NM_001258274.3:c.1381-193_1381-190del | NP_001245203.1:n.1381-193_1381-190del | |
| NM_001354615.2:c.1381-193_1381-190del | NP_001341544.1:n.1381-193_1381-190del | |
| NM_001354616.2:c.1381-193_1381-190del | NP_001341545.1:n.1381-193_1381-190del | |
| NM_001354617.2:c.1381-193_1381-190del | NP_001341546.1:n.1381-193_1381-190del | |
| NM_001354618.2:c.1381-193_1381-190del | NP_001341547.1:n.1381-193_1381-190del | |
| NM_001354619.2:c.1381-193_1381-190del | NP_001341548.1:n.1381-193_1381-190del | |
| NM_001354620.2:c.1810-193_1810-190del | NP_001341549.1:n.1810-193_1810-190del | |
| NM_001354621.2:c.1081-193_1081-190del | NP_001341550.1:n.1081-193_1081-190del | |
| NM_001354622.2:c.1081-193_1081-190del | NP_001341551.1:n.1081-193_1081-190del | |
| NM_001354623.2:c.1081-193_1081-190del | NP_001341552.1:n.1081-193_1081-190del | |
| NM_001354624.2:c.1030-193_1030-190del | NP_001341553.1:n.1030-193_1030-190del | |
| NM_001354625.2:c.1030-193_1030-190del | NP_001341554.1:n.1030-193_1030-190del | |
| NM_001354626.2:c.1030-193_1030-190del | NP_001341555.1:n.1030-193_1030-190del | |
| NM_001354627.2:c.1030-193_1030-190del | NP_001341556.1:n.1030-193_1030-190del | |
| NM_001354628.2:c.2011-193_2011-190del | NP_001341557.1:n.2011-193_2011-190del | |
| NM_001354629.2:c.2005-193_2005-190del | NP_001341558.1:n.2005-193_2005-190del | |
| NM_001354630.2:c.1939-193_1939-190del | NP_001341559.1:n.1939-193_1939-190del |