Linked Data
dbSNP Id:
rs1181283962
gnomAD v2:
12-103248394-TAA-T
gnomAD v3:
12-102854616-TAA-T
gnomAD v4:
12-102854616-TAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102854618_102854619del , CM000674.2:g.102854618_102854619del | GRCh38 |
| NC_000012.11:g.103248396_103248397del , CM000674.1:g.103248396_103248397del | GRCh37 |
| NC_000012.10:g.101772526_101772527del | NCBI36 |
| NG_008690.1:g.67985_67986del | |
| NG_008690.2:g.108793_108794del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.706+518_706+519del MANE Select | ENSP00000448059.1:n.706+518_706+519del | |
| ENST00000307000.7:c.691+518_691+519del | ENSP00000303500.2:n.691+518_691+519del | |
| ENST00000553106.5:c.706+518_706+519del | ENSP00000448059.1:n.706+518_706+519del | |
| NM_000277.1:c.706+518_706+519del | NP_000268.1:n.706+518_706+519del | |
| XM_011538422.1:c.706+518_706+519del | XP_011536724.1:n.706+518_706+519del | |
| NM_000277.2:c.706+518_706+519del | NP_000268.1:n.706+518_706+519del | |
| NM_001354304.1:c.706+518_706+519del | NP_001341233.1:n.706+518_706+519del | |
| XM_017019370.2:c.*167_*168del | XP_016874859.1:n.*167_*168del | |
| NM_000277.3:c.706+518_706+519del MANE Select | NP_000268.1:n.706+518_706+519del | |
| NM_001354304.2:c.706+518_706+519del | NP_001341233.1:n.706+518_706+519del |