Linked Data
dbSNP Id:
rs2058119281
gnomAD v3:
21-34895069-GGTCTAGATCAGAAAAT-G
gnomAD v4:
21-34895069-GGTCTAGATCAGAAAAT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34895070_34895085del , CM000683.2:g.34895070_34895085del | GRCh38 |
| NC_000021.8:g.36267367_36267382del , CM000683.1:g.36267367_36267382del | GRCh37 |
| NC_000021.7:g.35189237_35189252del | NCBI36 |
| NG_011402.2:g.1094627_1094642del , LRG_482:g.1094627_1094642del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.59-2122_59-2107del MANE Select | ENSP00000501943.1:n.59-2122_59-2107del | |
| ENST00000300305.7:c.59-2122_59-2107del | ENSP00000300305.3:n.59-2122_59-2107del | |
| ENST00000416754.1:c.59-2122_59-2107del | ENSP00000405158.1:n.59-2122_59-2107del | |
| ENST00000437180.5:c.59-2122_59-2107del | ENSP00000409227.1:n.59-2122_59-2107del | |
| ENST00000455571.5:c.59-7989_59-7974del | ENSP00000388189.1:n.59-7989_59-7974del | |
| ENST00000475045.6:c.59-2122_59-2107del | ENSP00000477072.1:n.59-2122_59-2107del | |
| ENST00000482318.5:c.59-14372_59-14357del | ENSP00000477067.1:n.59-14372_59-14357del | |
| NM_001754.4:c.59-2122_59-2107del , LRG_482t1:c.59-2122_59-2107del | NP_001745.2:n.59-2122_59-2107del | |
| XM_005261069.3:c.59-2122_59-2107del | XP_005261126.1:n.59-2122_59-2107del | |
| XM_011529766.1:c.59-2122_59-2107del | XP_011528068.1:n.59-2122_59-2107del | |
| XM_011529767.1:c.59-7989_59-7974del | XP_011528069.1:n.59-7989_59-7974del | |
| XM_011529768.1:c.59-7989_59-7974del | XP_011528070.1:n.59-7989_59-7974del | |
| XM_011529770.1:c.59-2122_59-2107del | XP_011528072.1:n.59-2122_59-2107del | |
| XR_937576.1:n.238-2122_238-2107del | ||
| XM_005261069.4:c.59-2122_59-2107del | XP_005261126.1:n.59-2122_59-2107del | |
| XM_011529766.2:c.59-2122_59-2107del | XP_011528068.1:n.59-2122_59-2107del | |
| XM_011529767.2:c.59-7989_59-7974del | XP_011528069.1:n.59-7989_59-7974del | |
| XM_011529768.2:c.59-7989_59-7974del | XP_011528070.1:n.59-7989_59-7974del | |
| XM_011529770.2:c.59-2122_59-2107del | XP_011528072.1:n.59-2122_59-2107del | |
| XR_937576.2:n.285-2122_285-2107del | ||
| NM_001754.5:c.59-2122_59-2107del MANE Select | NP_001745.2:n.59-2122_59-2107del |