Linked Data
dbSNP Id:
rs2127617959
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24658361del , CM000668.2:g.24658361del | GRCh38 |
| NC_000006.11:g.24658589del , CM000668.1:g.24658589del | GRCh37 |
| NC_000006.10:g.24766568del | NCBI36 |
| NG_052787.1:g.13530del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378198.9:c.425+203del MANE Select | ENSP00000367440.4:n.425+203del | |
| ENST00000341060.3:c.251+203del | ENSP00000345345.3:n.251+203del | |
| ENST00000378198.8:c.425+203del | ENSP00000367440.4:n.425+203del | |
| ENST00000478285.1:n.612+203del | ||
| ENST00000478507.1:n.320-5205del | ||
| NM_016614.2:c.425+203del | NP_057698.2:n.425+203del | |
| XR_926244.1:n.552+203del | ||
| NM_016614.3:c.425+203del MANE Select | NP_057698.2:n.425+203del |