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:
rs267607902
MyVariant Identifiers:
chr3:g.37092063_37092064insAACA (hg19)
chr3:g.37050572_37050573insAACA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37050572_37050573insAACA , CM000665.2:g.37050572_37050573insAACA | GRCh38 |
| NC_000003.11:g.37092063_37092064insAACA , CM000665.1:g.37092063_37092064insAACA | GRCh37 |
| NC_000003.10:g.37067067_37067068insAACA | NCBI36 |
| NG_007109.2:g.62223_62224insAACA , LRG_216:g.62223_62224insAACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413740.2:c.1754_1755insAACA | ENSP00000416476.2:p.Leu586ThrfsTer28 | |
| ENST00000429117.6:c.1896_1897insAACA | ENSP00000407019.2:p.Pro633AsnfsTer3 | |
| ENST00000456676.7:c.1983_1984insAACA | ENSP00000416687.3:p.Pro662AsnfsTer3 | |
| ENST00000492474.6:c.1467_1468insAACA | ENSP00000518393.1:p.Pro490AsnfsTer3 | |
| ENST00000616768.6:c.2097_2098insAACA | ENSP00000480669.3:p.Pro700AsnfsTer3 | |
| ENST00000673673.2:c.2025_2026insAACA | ENSP00000500979.2:p.Pro676AsnfsTer3 | |
| ENST00000231790.8:c.2190_2191insAACA MANE Select | ENSP00000231790.3:p.Pro731AsnfsTer3 | |
| ENST00000413212.2:c.*1108_*1109insAACA | ENSP00000400844.2:n.*1108_*1109insAACA | |
| ENST00000432299.6:c.*2022_*2023insAACA | ENSP00000416783.1:n.*2022_*2023insAACA | |
| ENST00000447829.6:c.*1301_*1302insAACA | ENSP00000399329.2:n.*1301_*1302insAACA | |
| ENST00000539477.6:c.1467_1468insAACA | ENSP00000443665.1:p.Pro490AsnfsTer3 | |
| ENST00000616768.5:c.1134_1135insAACA | ENSP00000480669.2:p.Pro379AsnfsTer3 | |
| ENST00000673673.1:c.1978_1979insAACA | ||
| ENST00000673741.1:n.1224_1225insAACA | ||
| ENST00000673889.1:n.1572_1573insAACA | ||
| ENST00000673897.1:c.*1982_*1983insAACA | ENSP00000501109.1:n.*1982_*1983insAACA | |
| ENST00000673899.1:c.1458_1459insAACA | ENSP00000501030.1:p.Pro487AsnfsTer3 | |
| ENST00000673947.1:c.*2330_*2331insAACA | ENSP00000501304.1:n.*2330_*2331insAACA | |
| ENST00000673972.1:c.*2068_*2069insAACA | ENSP00000501281.1:n.*2068_*2069insAACA | |
| ENST00000674019.1:c.1467_1468insAACA | ENSP00000501081.1:p.Pro490AsnfsTer3 | |
| ENST00000674111.1:c.*419_*420insAACA | ENSP00000501162.1:n.*419_*420insAACA | |
| ENST00000674125.1:n.901_902insAACA | ||
| ENST00000231790.6:c.2190_2191insAACA | ENSP00000231790.2:p.Pro731AsnfsTer3 | |
| ENST00000435176.5:c.1896_1897insAACA | ENSP00000402564.1:p.Pro633AsnfsTer3 | |
| ENST00000455445.6:c.1467_1468insAACA | ENSP00000398272.2:p.Pro490AsnfsTer3 | |
| ENST00000456676.6:c.1958_1959insAACA | ||
| ENST00000458205.6:c.1467_1468insAACA | ENSP00000402667.2:p.Pro490AsnfsTer3 | |
| ENST00000536378.5:c.1467_1468insAACA | ENSP00000444286.2:p.Pro490AsnfsTer3 | |
| ENST00000539477.5:c.1467_1468insAACA | ENSP00000443665.1:p.Pro490AsnfsTer3 | |
| NM_000249.3:c.2190_2191insAACA , LRG_216t1:c.2190_2191insAACA | NP_000240.1:p.Pro731AsnfsTer3 | |
| NM_001167617.1:c.1896_1897insAACA | NP_001161089.1:p.Pro633AsnfsTer3 | |
| NM_001167618.1:c.1467_1468insAACA | NP_001161090.1:p.Pro490AsnfsTer3 | |
| NM_001167619.1:c.1467_1468insAACA | NP_001161091.1:p.Pro490AsnfsTer3 | |
| NM_001258271.1:c.1983_1984insAACA | NP_001245200.1:p.Pro662AsnfsTer3 | |
| NM_001258273.1:c.1467_1468insAACA | NP_001245202.1:p.Pro490AsnfsTer3 | |
| NM_001258274.1:c.1467_1468insAACA | NP_001245203.1:p.Pro490AsnfsTer3 | |
| XM_005265161.1:c.1983_1984insAACA | XP_005265218.1:p.Pro662AsnfsTer3 | |
| XM_005265163.1:c.1467_1468insAACA | XP_005265220.1:p.Pro490AsnfsTer3 | |
| XM_005265164.1:c.1467_1468insAACA | XP_005265221.1:p.Pro490AsnfsTer3 | |
| XM_005265166.1:c.1167_1168insAACA | XP_005265223.1:p.Pro390AsnfsTer3 | |
| XM_011533727.1:c.1116_1117insAACA | XP_011532029.1:p.Pro373AsnfsTer3 | |
| NM_001167617.2:c.1896_1897insAACA | NP_001161089.1:p.Pro633AsnfsTer3 | |
| NM_001167618.2:c.1467_1468insAACA | NP_001161090.1:p.Pro490AsnfsTer3 | |
| NM_001167619.2:c.1467_1468insAACA | NP_001161091.1:p.Pro490AsnfsTer3 | |
| NM_001258274.2:c.1467_1468insAACA | NP_001245203.1:p.Pro490AsnfsTer3 | |
| NM_001354615.1:c.1467_1468insAACA | NP_001341544.1:p.Pro490AsnfsTer3 | |
| NM_001354616.1:c.1467_1468insAACA | NP_001341545.1:p.Pro490AsnfsTer3 | |
| NM_001354617.1:c.1467_1468insAACA | NP_001341546.1:p.Pro490AsnfsTer3 | |
| NM_001354618.1:c.1467_1468insAACA | NP_001341547.1:p.Pro490AsnfsTer3 | |
| NM_001354619.1:c.1467_1468insAACA | NP_001341548.1:p.Pro490AsnfsTer3 | |
| NM_001354620.1:c.1896_1897insAACA | NP_001341549.1:p.Pro633AsnfsTer3 | |
| NM_001354621.1:c.1167_1168insAACA | NP_001341550.1:p.Pro390AsnfsTer3 | |
| NM_001354622.1:c.1167_1168insAACA | NP_001341551.1:p.Pro390AsnfsTer3 | |
| NM_001354623.1:c.1167_1168insAACA | NP_001341552.1:p.Pro390AsnfsTer3 | |
| NM_001354624.1:c.1116_1117insAACA | NP_001341553.1:p.Pro373AsnfsTer3 | |
| NM_001354625.1:c.1116_1117insAACA | NP_001341554.1:p.Pro373AsnfsTer3 | |
| NM_001354626.1:c.1116_1117insAACA | NP_001341555.1:p.Pro373AsnfsTer3 | |
| NM_001354627.1:c.1116_1117insAACA | NP_001341556.1:p.Pro373AsnfsTer3 | |
| NM_001354628.1:c.2097_2098insAACA | NP_001341557.1:p.Pro700AsnfsTer3 | |
| NM_001354629.1:c.2091_2092insAACA | NP_001341558.1:p.Pro698AsnfsTer3 | |
| NM_001354630.1:c.2025_2026insAACA | NP_001341559.1:p.Pro676AsnfsTer3 | |
| XM_005265161.2:c.1983_1984insAACA | XP_005265218.1:p.Pro662AsnfsTer3 | |
| XM_017006450.2:c.1167_1168insAACA | XP_016861939.1:p.Pro390AsnfsTer3 | |
| NM_000249.4:c.2190_2191insAACA MANE Select | NP_000240.1:p.Pro731AsnfsTer3 | |
| NM_001167617.3:c.1896_1897insAACA | NP_001161089.1:p.Pro633AsnfsTer3 | |
| NM_001167618.3:c.1467_1468insAACA | NP_001161090.1:p.Pro490AsnfsTer3 | |
| NM_001167619.3:c.1467_1468insAACA | NP_001161091.1:p.Pro490AsnfsTer3 | |
| NM_001258271.2:c.1983_1984insAACA | NP_001245200.1:p.Pro662AsnfsTer3 | |
| NM_001258273.2:c.1467_1468insAACA | NP_001245202.1:p.Pro490AsnfsTer3 | |
| NM_001258274.3:c.1467_1468insAACA | NP_001245203.1:p.Pro490AsnfsTer3 | |
| NM_001354615.2:c.1467_1468insAACA | NP_001341544.1:p.Pro490AsnfsTer3 | |
| NM_001354616.2:c.1467_1468insAACA | NP_001341545.1:p.Pro490AsnfsTer3 | |
| NM_001354617.2:c.1467_1468insAACA | NP_001341546.1:p.Pro490AsnfsTer3 | |
| NM_001354618.2:c.1467_1468insAACA | NP_001341547.1:p.Pro490AsnfsTer3 | |
| NM_001354619.2:c.1467_1468insAACA | NP_001341548.1:p.Pro490AsnfsTer3 | |
| NM_001354620.2:c.1896_1897insAACA | NP_001341549.1:p.Pro633AsnfsTer3 | |
| NM_001354621.2:c.1167_1168insAACA | NP_001341550.1:p.Pro390AsnfsTer3 | |
| NM_001354622.2:c.1167_1168insAACA | NP_001341551.1:p.Pro390AsnfsTer3 | |
| NM_001354623.2:c.1167_1168insAACA | NP_001341552.1:p.Pro390AsnfsTer3 | |
| NM_001354624.2:c.1116_1117insAACA | NP_001341553.1:p.Pro373AsnfsTer3 | |
| NM_001354625.2:c.1116_1117insAACA | NP_001341554.1:p.Pro373AsnfsTer3 | |
| NM_001354626.2:c.1116_1117insAACA | NP_001341555.1:p.Pro373AsnfsTer3 | |
| NM_001354627.2:c.1116_1117insAACA | NP_001341556.1:p.Pro373AsnfsTer3 | |
| NM_001354628.2:c.2097_2098insAACA | NP_001341557.1:p.Pro700AsnfsTer3 | |
| NM_001354629.2:c.2091_2092insAACA | NP_001341558.1:p.Pro698AsnfsTer3 | |
| NM_001354630.2:c.2025_2026insAACA | NP_001341559.1:p.Pro676AsnfsTer3 |