SERVICES INTERRUPTION:2026-08-07T10:00:00-0500 — 2026-08-14T18:00:00-0500
Allele Registry, ERepo, and Actionability UI services may experience intermittent service interruptions during this period.
Allele Registry, ERepo, and Actionability UI services may experience intermittent service interruptions during this period.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117394422C>T , CM000673.2:g.117394422C>T | GRCh38 |
| NC_000011.9:g.117265138C>T , CM000673.1:g.117265138C>T | GRCh37 |
| NC_000011.8:g.116770348C>T | NCBI36 |
| NG_033032.1:g.77645C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014956.5:c.2689C>T MANE Select | NP_055771.4:p.Arg897Ter |
| ENST00000278935.8:c.2689C>T MANE Select | ENSP00000278935.3:p.Arg897Ter |
| NM_001271933.1:c.2698C>T | NP_001258862.1:p.Arg900Ter |
| NM_001271933.2:c.2698C>T | NP_001258862.1:p.Arg900Ter |
| NM_014956.4:c.2689C>T | NP_055771.4:p.Arg897Ter |
| ENST00000278935.7:c.2689C>T | ENSP00000278935.3:p.Arg897Ter |
| ENST00000533223.1:n.3571C>T | |
| ENST00000533675.5:n.2797C>T | |
| ENST00000533706.5:n.2013C>T | |
| XM_005271453.1:c.4375C>T | XP_005271510.1:p.Arg1459Ter |
| XM_005271456.1:c.2689C>T | XP_005271513.1:p.Arg897Ter |
| XM_005271457.1:c.2698C>T | XP_005271514.1:p.Arg900Ter |
| XM_006718788.1:c.4384C>T | XP_006718851.1:p.Arg1462Ter |
| XM_006718794.1:c.2611C>T | XP_006718857.1:p.Arg871Ter |
| XM_011542670.1:c.4444C>T | XP_011540972.1:p.Arg1482Ter |
| XM_011542671.1:c.4444C>T | XP_011540973.1:p.Arg1482Ter |
| XM_011542672.1:c.4444C>T | XP_011540974.1:p.Arg1482Ter |
| XM_011542673.1:c.4444C>T | XP_011540975.1:p.Arg1482Ter |
| XM_011542674.1:c.4435C>T | XP_011540976.1:p.Arg1479Ter |
| XM_011542675.1:c.4444C>T | XP_011540977.1:p.Arg1482Ter |
| XM_011542676.1:c.4366C>T | XP_011540978.1:p.Arg1456Ter |
| XM_011542677.1:c.4306C>T | XP_011540979.1:p.Arg1436Ter |
| XM_011542678.1:c.4306C>T | XP_011540980.1:p.Arg1436Ter |
| XM_011542679.1:c.4297C>T | XP_011540981.1:p.Arg1433Ter |
| XM_011542680.1:c.4198C>T | XP_011540982.1:p.Arg1400Ter |
| XM_011542681.1:c.4087C>T | XP_011540983.1:p.Arg1363Ter |
| XM_011542682.1:c.2758C>T | XP_011540984.1:p.Arg920Ter |
| XM_011542683.1:c.2758C>T | XP_011540985.1:p.Arg920Ter |
| XM_011542685.1:c.2680C>T | XP_011540987.1:p.Arg894Ter |
| XM_011542686.1:c.2680C>T | XP_011540988.1:p.Arg894Ter |
| XM_011542687.1:c.2620C>T | XP_011540989.1:p.Arg874Ter |
| XM_011542688.1:c.2419C>T | XP_011540990.1:p.Arg807Ter |
| XM_017017364.1:c.4435C>T | XP_016872853.1:p.Arg1479Ter |
| XM_017017365.1:c.4435C>T | XP_016872854.1:p.Arg1479Ter |
| XM_017017366.1:c.4435C>T | XP_016872855.1:p.Arg1479Ter |
| XM_017017367.1:c.4435C>T | XP_016872856.1:p.Arg1479Ter |
| XM_017017368.1:c.4435C>T | XP_016872857.1:p.Arg1479Ter |
| XM_017017369.1:c.4435C>T | XP_016872858.1:p.Arg1479Ter |
| XM_017017370.1:c.4435C>T | XP_016872859.1:p.Arg1479Ter |
| XM_017017371.1:c.4357C>T | XP_016872860.1:p.Arg1453Ter |
| XM_017017372.1:c.4297C>T | XP_016872861.1:p.Arg1433Ter |
| XM_017017373.2:c.4297C>T | XP_016872862.1:p.Arg1433Ter |
| XM_017017374.1:c.4297C>T | XP_016872863.1:p.Arg1433Ter |
| XM_017017375.2:c.4297C>T | XP_016872864.1:p.Arg1433Ter |
| XM_017017376.1:c.4288C>T | XP_016872865.1:p.Arg1430Ter |
| XM_017017377.2:c.4189C>T | XP_016872866.1:p.Arg1397Ter |
| XM_017017378.1:c.4078C>T | XP_016872867.1:p.Arg1360Ter |
| XM_017017379.1:c.2749C>T | XP_016872868.1:p.Arg917Ter |
| XM_017017380.1:c.2749C>T | XP_016872869.1:p.Arg917Ter |
| XM_017017381.1:c.2671C>T | XP_016872870.1:p.Arg891Ter |
| XM_017017382.1:c.2671C>T | XP_016872871.1:p.Arg891Ter |
| XM_017017383.1:c.2611C>T | XP_016872872.1:p.Arg871Ter |
| XM_017017384.1:c.2611C>T | XP_016872873.1:p.Arg871Ter |
| XM_017017385.1:c.2410C>T | XP_016872874.1:p.Arg804Ter |
| XM_017017386.1:c.2326C>T | XP_016872875.1:p.Arg776Ter |
| XR_001747793.1:n.4853C>T | |
| XR_001747794.1:n.4853C>T | |
| XR_002957132.1:n.4853C>T | |
| XR_002957133.1:n.4793C>T | |
| XR_428971.2:n.4655C>T | |
| XR_428971.3:n.4655C>T | |
| XR_947808.1:n.4862C>T | |
| XR_947809.1:n.4862C>T | |
| XR_947810.1:n.4793C>T |