Linked Data
dbSNP Id:
rs778661381
ExAC:
3:93593041 GTA / G
gnomAD v2:
3-93593041-GTA-G
gnomAD v4:
3-93874197-GTA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93874200_93874201del , CM000665.2:g.93874200_93874201del | GRCh38 |
| NC_000003.11:g.93593044_93593045del , CM000665.1:g.93593044_93593045del | GRCh37 |
| NC_000003.10:g.95075734_95075735del | NCBI36 |
| NG_009813.1:g.104892_104893del , LRG_572:g.104892_104893del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.*1+45_*1+46del | ENSP00000330021.7:n.*1+45_*1+46del | |
| ENST00000394236.9:c.*46_*47del MANE Select | ENSP00000377783.3:n.*46_*47del | |
| ENST00000407433.6:c.*46_*47del | ENSP00000385794.2:n.*46_*47del | |
| ENST00000647936.1:c.*180_*181del | ENSP00000496822.1:n.*180_*181del | |
| ENST00000648381.1:n.2245_2246del | ||
| ENST00000648853.1:c.*46_*47del | ENSP00000497262.1:n.*46_*47del | |
| ENST00000650591.1:c.*46_*47del | ENSP00000497376.1:n.*46_*47del | |
| ENST00000394236.7:c.*46_*47del | ENSP00000377783.3:n.*46_*47del | |
| ENST00000407433.5:c.*46_*47del | ENSP00000385794.1:n.*46_*47del | |
| NM_000313.3:c.*46_*47del , LRG_572t1:c.*46_*47del | NP_000304.2:n.*46_*47del | |
| NM_001314077.1:c.*46_*47del , LRG_572t2:c.*46_*47del | NP_001301006.1:n.*46_*47del | |
| NM_000313.4:c.*46_*47del MANE Select | NP_000304.2:n.*46_*47del | |
| NM_001314077.2:c.*46_*47del | NP_001301006.1:n.*46_*47del |