Linked Data
dbSNP Id:
rs1307116000
gnomAD v2:
12-103245069-AG-A
gnomAD v3:
12-102851291-AG-A
gnomAD v4:
12-102851291-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102851292del , CM000674.2:g.102851292del | GRCh38 |
| NC_000012.11:g.103245070del , CM000674.1:g.103245070del | GRCh37 |
| NC_000012.10:g.101769200del | NCBI36 |
| NG_008690.1:g.71311del | |
| NG_008690.2:g.112119del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.912+395del MANE Select | ENSP00000448059.1:n.912+395del | |
| ENST00000307000.7:c.897+395del | ENSP00000303500.2:n.897+395del | |
| ENST00000549247.6:n.671+395del | ||
| ENST00000551114.2:n.574+395del | ||
| ENST00000553106.5:c.912+395del | ENSP00000448059.1:n.912+395del | |
| ENST00000635477.1:c.73+395del | ||
| NM_000277.1:c.912+395del | NP_000268.1:n.912+395del | |
| XM_011538422.1:c.912+395del | XP_011536724.1:n.912+395del | |
| NM_000277.2:c.912+395del | NP_000268.1:n.912+395del | |
| NM_001354304.1:c.912+395del | NP_001341233.1:n.912+395del | |
| NM_000277.3:c.912+395del MANE Select | NP_000268.1:n.912+395del | |
| NM_001354304.2:c.912+395del | NP_001341233.1:n.912+395del |