Linked Data
dbSNP Id:
rs2047789189
gnomAD v3:
17-58692583-CGCACGCCCCAGCGAGGGCGTGCG-C
gnomAD v4:
17-58692583-CGCACGCCCCAGCGAGGGCGTGCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58692585_58692607del , CM000679.2:g.58692585_58692607del | GRCh38 |
| NC_000017.10:g.56769946_56769968del , CM000679.1:g.56769946_56769968del | GRCh37 |
| NC_000017.9:g.54124945_54124967del | NCBI36 |
| NG_023199.1:g.4984_5006del , LRG_314:g.4984_5006del | |
| NG_047169.1:g.4474_4496del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.-307_-285del | ENSP00000464056.2:n.-307_-285del | |
| ENST00000697675.1:n.13_35del | ||
| ENST00000697676.1:n.2_24del | ||
| ENST00000697683.1:c.-59_-37del | ENSP00000513395.1:n.-59_-37del | |
| ENST00000697684.1:n.2_24del | ||
| ENST00000337432.8:c.-59_-37del | ENSP00000336701.4:n.-59_-37del | |
| ENST00000461271.5:c.-307_-285del | ENSP00000464056.1:n.-307_-285del | |
| ENST00000487921.5:n.10_32del | ||
| ENST00000583539.5:c.-59_-37del | ENSP00000463121.1:n.-59_-37del | |
| NM_002876.3:c.-59_-37del | NP_002867.1:n.-59_-37del | |
| NM_058216.2:c.-59_-37del | NP_478123.1:n.-59_-37del | |
| NR_103872.1:n.13_35del | ||
| NR_103873.1:n.13_35del | ||
| XM_006722001.2:c.-59_-37del | XP_006722064.1:n.-59_-37del | |
| XM_006722002.2:c.-59_-37del | XP_006722065.1:n.-59_-37del | |
| XM_006722004.2:c.-307_-285del | XP_006722067.1:n.-307_-285del | |
| XM_006722005.2:c.-254_-232del | XP_006722068.1:n.-254_-232del | |
| XR_934513.1:n.15_37del | ||
| XR_934514.1:n.15_37del | ||
| XM_006722001.4:c.-59_-37del | XP_006722064.1:n.-59_-37del | |
| XM_006722002.4:c.-59_-37del | XP_006722065.1:n.-59_-37del | |
| XM_006722004.3:c.-307_-285del | XP_006722067.1:n.-307_-285del | |
| XM_006722005.3:c.-254_-232del | XP_006722068.1:n.-254_-232del | |
| XM_017024914.1:c.-307_-285del | XP_016880403.1:n.-307_-285del | |
| XM_017024917.1:c.-254_-232del | XP_016880406.1:n.-254_-232del | |
| XR_934513.3:n.446_468del | ||
| XR_934514.3:n.446_468del |