Linked Data
ClinVar Variation Id:
620625
dbSNP Id:
rs1339924833
gnomAD v2:
12-25362743-ACTTTGT-A
gnomAD v3:
12-25209809-ACTTTGT-A
gnomAD v4:
12-25209809-ACTTTGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25209815_25209820del , CM000674.2:g.25209815_25209820del | GRCh38 |
| NC_000012.11:g.25362749_25362754del , CM000674.1:g.25362749_25362754del | GRCh37 |
| NC_000012.10:g.25254016_25254021del | NCBI36 |
| NG_007524.1:g.46106_46111del | |
| NG_007524.2:g.46189_46194del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000557334.6:c.208_213del | ENSP00000452512.1:p.Thr70_Lys71del | |
| ENST00000685328.1:c.547_552del | ENSP00000508921.1:p.Thr183_Lys184del | |
| ENST00000686877.1:c.*518_*523del | ENSP00000510431.1:n.*518_*523del | |
| ENST00000687356.1:c.*245_*250del | ENSP00000510511.1:n.*245_*250del | |
| ENST00000688228.1:n.1021_1026del | ||
| ENST00000688940.1:c.547_552del | ENSP00000509238.1:p.Thr183_Lys184del | |
| ENST00000690406.1:c.350_355del | ||
| ENST00000690804.1:c.*508_*513del | ENSP00000508568.1:n.*508_*513del | |
| ENST00000692768.1:c.349_354del | ENSP00000510254.1:p.Thr117_Lys118del | |
| ENST00000693229.1:c.472_477del | ENSP00000509223.1:p.Thr158_Lys159del | |
| ENST00000256078.10:c.*101_*106del MANE Plus Clinical | ENSP00000256078.5:n.*101_*106del | |
| ENST00000311936.8:c.547_552del MANE Select | ENSP00000308495.3:p.Thr183_Lys184del | |
| ENST00000256078.8:c.*101_*106del | ENSP00000256078.4:n.*101_*106del | |
| ENST00000311936.7:c.547_552del | ENSP00000308495.3:p.Thr183_Lys184del | |
| ENST00000557334.5:c.208_213del | ENSP00000452512.1:p.Thr70_Lys71del | |
| NM_004985.4:c.547_552del | NP_004976.2:p.Thr183_Lys184del | |
| NM_033360.3:c.*101_*106del | NP_203524.1:n.*101_*106del | |
| XM_011520653.1:c.547_552del | XP_011518955.1:p.Thr183_Lys184del | |
| XM_011520653.3:c.547_552del | XP_011518955.1:p.Thr183_Lys184del | |
| NM_001369786.1:c.*101_*106del | NP_001356715.1:n.*101_*106del | |
| NM_001369787.1:c.547_552del | NP_001356716.1:p.Thr183_Lys184del | |
| NM_004985.5:c.547_552del MANE Select | NP_004976.2:p.Thr183_Lys184del | |
| NM_033360.4:c.*101_*106del MANE Plus Clinical | NP_203524.1:n.*101_*106del |