Linked Data
dbSNP Id:
rs1753984410
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159316074del , CM000667.2:g.159316074del | GRCh38 |
| NC_000005.9:g.158743082del , CM000667.1:g.158743082del | GRCh37 |
| NC_000005.8:g.158675660del | NCBI36 |
| NG_009618.1:g.19401del , LRG_71:g.19401del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696750.1:c.*28del | ENSP00000512849.1:n.*28del | |
| ENST00000696751.1:c.*510del | ENSP00000512850.1:n.*510del | |
| ENST00000231228.3:c.*28del MANE Select | ENSP00000231228.2:n.*28del | |
| ENST00000231228.2:c.*28del | ENSP00000231228.2:n.*28del | |
| NM_002187.2:c.*28del , LRG_71t1:c.*28del | NP_002178.2:n.*28del | |
| NM_002187.3:c.*28del MANE Select | NP_002178.2:n.*28del |