SERVICES INTERRUPTION - MAINTENANCE: 2026-06-27T10:00:00-0500 — 2026-06-27T14:00:00-0500
Multiple UI & API services will be unavailable during this window, including those of Allele Registry, CSpec, ERepo, LDH, and ACI.
The maintenance will upgrade a key machine used by these services.
The interruptions are expected to be shorter than the full maintenance activity window.
Multiple UI & API services will be unavailable during this window, including those of Allele Registry, CSpec, ERepo, LDH, and ACI.
The maintenance will upgrade a key machine used by these services.
The interruptions are expected to be shorter than the full maintenance activity window.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2080166_2084449del , CM000678.2:g.2080166_2084449del | GRCh38 |
| NC_000016.9:g.2130167_2134450del , CM000678.1:g.2130167_2134450del | GRCh37 |
| NC_000016.8:g.2070168_2074451del | NCBI36 |
| NG_005895.1:g.35861_40144del , LRG_487:g.35861_40144del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000548.3:c.3399_4227del , LRG_487t1:c.3399_4227del | |
| NM_000548.4:c.3399_4227del | |
| NM_000548.5:c.3399_4227del | |
| NM_001077183.1:c.3267_4026del | |
| NM_001077183.2:c.3267_4026del | |
| NM_001077183.3:c.3267_4026del | |
| NM_001114382.1:c.3399_4158del | |
| NM_001114382.2:c.3399_4158del | |
| NM_001114382.3:c.3399_4158del | |
| NM_001318827.1:c.3159_3918del | |
| NM_001318827.2:c.3159_3918del | |
| NM_001318829.1:c.3123_3882del | |
| NM_001318829.2:c.3123_3882del | |
| NM_001318831.1:c.2667_3495del | |
| NM_001318831.2:c.2667_3495del | |
| NM_001318832.1:c.3300_4059del | |
| NM_001318832.2:c.3300_4059del | |
| NM_001363528.1:c.3270_4029del | |
| NM_001363528.2:c.3270_4029del | |
| NM_001370404.1:c.3267_4095del | |
| NM_001370405.1:c.3270_4098del | |
| NM_021055.2:c.3270_4098del | |
| NM_021055.3:c.3270_4098del | |
| ENST00000219476.7:c.3399_4227del | |
| ENST00000219476.9:c.3399_4227del | |
| ENST00000350773.8:c.3399_4158del | |
| ENST00000350773.9:c.3399_4158del | |
| ENST00000382538.10:c.3123_3882del | |
| ENST00000401874.6:c.3267_4026del | |
| ENST00000401874.7:c.3267_4026del | |
| ENST00000439117.6:c.*2566_*3394del | |
| ENST00000439673.6:c.3159_3918del | |
| ENST00000497886.5:n.1226_1985del | |
| ENST00000568454.5:c.3300_4059del | |
| ENST00000568454.6:c.3300_4059del | |
| ENST00000568566.6:c.*1817_*2576del | |
| ENST00000642206.2:c.3315_4074del | |
| ENST00000642365.1:c.2053_2881del | |
| ENST00000642365.2:c.3396_4224del | |
| ENST00000642561.1:c.3270_4098del | |
| ENST00000642797.1:c.3270_4029del | |
| ENST00000642936.1:c.3267_4095del | |
| ENST00000643088.1:c.3267_4026del | |
| ENST00000643946.1:c.3399_4158del | |
| ENST00000644043.1:c.3270_4098del | |
| ENST00000644329.1:c.3267_4026del | |
| ENST00000644335.1:c.3270_4029del | |
| ENST00000644399.1:c.3389_4148del | |
| ENST00000644417.2:c.*3848_*4607del | |
| ENST00000645024.1:n.1552_2311del | |
| ENST00000646388.1:c.3399_4227del | |
| ENST00000646464.2:c.*4321_*6976del | |
| ENST00000646634.1:n.2283_3042del | |
| ENST00000646674.1:n.14_1479del | |
| ENST00000647042.1:n.691_1450del | |
| XM_005255529.3:c.3270_4098del | |
| XM_005255531.3:c.3270_4029del | |
| XM_005255531.4:c.3270_4029del | |
| XM_011522636.1:c.3399_4281del | |
| XM_011522636.2:c.3399_4281del | |
| XM_011522637.1:c.3396_4278del | |
| XM_011522637.2:c.3396_4278del | |
| XM_011522638.1:c.3288_4170del | |
| XM_011522638.2:c.3561_4443del | |
| XM_011522639.1:c.3270_4152del | |
| XM_011522639.2:c.3270_4152del | |
| XM_011522640.1:c.3267_4149del | |
| XM_011522640.2:c.3267_4149del | |
| XM_011522641.1:c.3159_3918del | |
| XM_017023615.1:c.3396_4224del | |
| XM_017023616.1:c.3267_4095del | |
| XM_017023617.1:c.3432_4191del | |
| XM_017023618.1:c.2055_2937del | |
| XM_024450413.1:c.3267_4026del |