Linked Data
dbSNP Id:
rs2102546382
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216070425_216070426del , CM000663.2:g.216070425_216070426del | GRCh38 |
| NC_000001.10:g.216243767_216243768del , CM000663.1:g.216243767_216243768del | GRCh37 |
| NC_000001.9:g.214310390_214310391del | NCBI36 |
| NG_009497.1:g.357971_357972del | |
| NG_009497.2:g.358023_358024del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.5858-134_5858-133del MANE Select | ENSP00000305941.3:n.5858-134_5858-133del | |
| ENST00000674083.1:c.5858-134_5858-133del | ENSP00000501296.1:n.5858-134_5858-133del | |
| ENST00000307340.7:c.5858-134_5858-133del | ENSP00000305941.3:n.5858-134_5858-133del | |
| NM_206933.2:c.5858-134_5858-133del | NP_996816.2:n.5858-134_5858-133del | |
| NM_206933.3:c.5858-134_5858-133del | NP_996816.2:n.5858-134_5858-133del | |
| NM_206933.4:c.5858-134_5858-133del MANE Select | NP_996816.3:n.5858-134_5858-133del |