Linked Data
dbSNP Id:
rs377685742
gnomAD v2:
3-186566830-GGACAA-G
gnomAD v3:
3-186849041-GGACAA-G
gnomAD v4:
3-186849041-GGACAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186849042_186849046del , CM000665.2:g.186849042_186849046del | GRCh38 |
| NC_000003.11:g.186566831_186566835del , CM000665.1:g.186566831_186566835del | GRCh37 |
| NC_000003.10:g.188049525_188049529del | NCBI36 |
| NG_021140.1:g.11369_11373del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320741.7:c.-8-4009_-8-4005del MANE Select | ENSP00000320709.2:n.-8-4009_-8-4005del | |
| ENST00000320741.6:c.-8-4009_-8-4005del | ENSP00000320709.2:n.-8-4009_-8-4005del | |
| ENST00000444204.2:c.-9+3435_-9+3439del | ENSP00000389814.2:n.-9+3435_-9+3439del | |
| NM_001177800.1:c.-9+3435_-9+3439del | NP_001171271.1:n.-9+3435_-9+3439del | |
| NM_004797.3:c.-8-4009_-8-4005del | NP_004788.1:n.-8-4009_-8-4005del | |
| XM_011513324.1:c.-124-2064_-124-2060del | XP_011511626.1:n.-124-2064_-124-2060del | |
| NM_004797.4:c.-8-4009_-8-4005del MANE Select | NP_004788.1:n.-8-4009_-8-4005del | |
| NM_001177800.2:c.-9+3435_-9+3439del | NP_001171271.1:n.-9+3435_-9+3439del |