Linked Data
dbSNP Id:
rs1200781788
gnomAD v2:
12-103248054-GC-G
gnomAD v3:
12-102854276-GC-G
gnomAD v4:
12-102854276-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102854279del , CM000674.2:g.102854279del | GRCh38 |
| NC_000012.11:g.103248057del , CM000674.1:g.103248057del | GRCh37 |
| NC_000012.10:g.101772187del | NCBI36 |
| NG_008690.1:g.68326del | |
| NG_008690.2:g.109134del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.706+859del MANE Select | ENSP00000448059.1:n.706+859del | |
| ENST00000307000.7:c.691+859del | ENSP00000303500.2:n.691+859del | |
| ENST00000553106.5:c.706+859del | ENSP00000448059.1:n.706+859del | |
| NM_000277.1:c.706+859del | NP_000268.1:n.706+859del | |
| XM_011538422.1:c.706+859del | XP_011536724.1:n.706+859del | |
| NM_000277.2:c.706+859del | NP_000268.1:n.706+859del | |
| NM_001354304.1:c.706+859del | NP_001341233.1:n.706+859del | |
| XM_017019370.2:c.*508del | XP_016874859.1:n.*508del | |
| NM_000277.3:c.706+859del MANE Select | NP_000268.1:n.706+859del | |
| NM_001354304.2:c.706+859del | NP_001341233.1:n.706+859del |