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_000007.14:g.5996137_6004090del , CM000669.2:g.5996137_6004090del | GRCh38 |
| NC_000007.13:g.6035768_6043721del , CM000669.1:g.6035768_6043721del | GRCh37 |
| NC_000007.12:g.6002294_6010247del | NCBI36 |
| NG_008466.1:g.10018_17971del , LRG_161:g.10018_17971del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.164-31_*299+2972del | ||
| ENST00000699840.2:c.164-31_801-503del | ||
| ENST00000699930.2:c.164-31_696-503del | ||
| ENST00000406569.8:c.164-31_804-503del | ||
| ENST00000644110.2:c.164-31_*398-503del | ||
| ENST00000699752.1:c.164-31_804-503del | ||
| ENST00000699753.1:c.-242-31_*202+1190del | ||
| ENST00000699754.1:c.164-31_705+2972del | ||
| ENST00000699755.1:c.-242-31_*203-503del | ||
| ENST00000699756.1:c.164-31_*391-503del | ||
| ENST00000699757.1:c.-52-31_*61-503del | ||
| ENST00000699758.1:c.164-31_*61-503del | ||
| ENST00000699759.1:n.236-31_876-503del | ||
| ENST00000699760.1:c.-52-31_486-503del | ||
| ENST00000699761.1:c.-189-31_399-503del | ||
| ENST00000699762.1:c.-242-31_231-503del | ||
| ENST00000699763.1:c.-242-31_399-503del | ||
| ENST00000699764.1:c.164-31_804-503del | ||
| ENST00000699765.1:c.-52-31_485+1190del | ||
| ENST00000699766.1:c.164-31_804-503del | ||
| ENST00000699767.1:c.164-31_804-503del | ||
| ENST00000699768.1:c.164-31_804-503del | ||
| ENST00000699811.1:c.-417-31_399-503del | ||
| ENST00000699814.1:c.88-31_526+2972del | ||
| ENST00000699815.1:c.-242-31_*304+1190del | ||
| ENST00000699816.1:c.-242-31_399-503del | ||
| ENST00000699817.1:c.164-1453_*398-503del | ||
| ENST00000699818.1:c.-242-31_399-503del | ||
| ENST00000699819.1:c.-255-31_*60+1190del | ||
| ENST00000699820.1:c.164-31_804-503del | ||
| ENST00000699821.1:c.-242-31_399-503del | ||
| ENST00000699822.1:c.-242-31_*256-503del | ||
| ENST00000699823.1:c.-189-31_399-503del | ||
| ENST00000699824.1:c.164-31_*307-503del | ||
| ENST00000699825.1:c.-242-31_399-503del | ||
| ENST00000699826.1:c.-242-31_*203-503del | ||
| ENST00000699827.1:c.164-31_636-503del | ||
| ENST00000699828.1:c.164-31_804-503del | ||
| ENST00000699829.1:c.-189-31_*305-503del | ||
| ENST00000699830.1:c.164-31_*203-503del | ||
| ENST00000699833.1:n.244-31_2073del | ||
| ENST00000699837.1:c.-139-31_399-503del | ||
| ENST00000699838.1:c.*64-31_*704-503del | ||
| ENST00000699839.1:c.350-31_990-503del | ||
| ENST00000699840.1:c.164-31_801-503del | ||
| ENST00000699916.1:c.-242-31_*61-503del | ||
| ENST00000699917.1:c.164-31_*253-503del | ||
| ENST00000699918.1:c.164-31_*305-503del | ||
| ENST00000699919.1:c.164-31_*391-503del | ||
| ENST00000699920.1:c.164-31_*440-503del | ||
| ENST00000699928.1:c.164-31_804-503del | ||
| ENST00000699929.1:c.164-31_*105-503del | ||
| ENST00000699930.1:c.164-31_696-503del | ||
| ENST00000699931.1:n.275-31_915-503del | ||
| ENST00000699932.1:c.164-31_803+1190del | ||
| ENST00000699933.1:n.244-31_883+1190del | ||
| ENST00000699951.1:c.164-31_803+1190del | ||
| ENST00000699952.1:c.164-31_803+1190del | ||
| ENST00000699953.1:c.164-31_706-503del | ||
| ENST00000699954.1:c.164-31_*105-503del | ||
| ENST00000265849.12:c.164-31_804-503del | ||
| ENST00000642292.1:c.-242-31_399-503del | ||
| ENST00000642456.1:c.-242-31_399-503del | ||
| ENST00000643595.1:c.164-31_*203-503del | ||
| ENST00000265849.11:c.164-31_804-503del | ||
| ENST00000382321.5:c.164-31_803+1190del | ||
| ENST00000406569.7:n.164-31_804-503del | ||
| ENST00000441476.6:c.-52-31_486-503del | ||
| ENST00000469652.1:n.62+1904_62+9857del | ||
| NM_000535.5:c.164-31_804-503del , LRG_161t1:c.164-31_804-503del | ||
| NR_003085.2:n.246-31_886-503del | ||
| XM_006715742.2:c.158-31_798-503del | ||
| XM_011515427.1:c.209-31_849-503del | ||
| XM_011515428.1:c.209-31_849-503del | ||
| XM_011515429.1:c.-52-31_486-503del | ||
| XM_011515430.1:c.-52-31_486-503del | ||
| NM_000535.6:c.164-31_804-503del | ||
| NM_001322003.1:c.-242-31_399-503del | ||
| NM_001322004.1:c.-242-31_399-503del | ||
| NM_001322005.1:c.-242-31_399-503del | ||
| NM_001322006.1:c.164-31_804-503del | ||
| NM_001322007.1:c.-52-31_486-503del | ||
| NM_001322008.1:c.-52-31_486-503del | ||
| NM_001322009.1:c.-242-31_399-503del | ||
| NM_001322010.1:c.-242-31_399-503del | ||
| NM_001322011.1:c.-721-31_-130-503del | ||
| NM_001322012.1:c.-721-31_-130-503del | ||
| NM_001322013.1:c.-242-31_231-503del | ||
| NM_001322014.1:c.164-31_804-503del | ||
| NM_001322015.1:c.-321-31_495-503del | ||
| NR_136154.1:n.251-31_891-503del | ||
| XM_017012342.2:c.-621-31_-31+1190del | ||
| XM_024446800.1:c.-242-31_399-503del | ||
| NM_000535.7:c.164-31_804-503del | ||
| NM_001322003.2:c.-242-31_399-503del | ||
| NM_001322004.2:c.-242-31_399-503del | ||
| NM_001322005.2:c.-242-31_399-503del | ||
| NM_001322006.2:c.164-31_804-503del | ||
| NM_001322008.2:c.-52-31_486-503del | ||
| NM_001322009.2:c.-242-31_399-503del | ||
| NM_001322010.2:c.-242-31_399-503del | ||
| NM_001322011.2:c.-721-31_-130-503del | ||
| NM_001322012.2:c.-721-31_-130-503del | ||
| NM_001322013.2:c.-242-31_231-503del | ||
| NM_001322014.2:c.164-31_804-503del | ||
| NM_001322015.2:c.-321-31_495-503del | ||
| NM_001322007.2:c.-52-31_486-503del |