Linked Data
dbSNP Id:
rs2031524155
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216070522_216070526del , CM000663.2:g.216070522_216070526del | GRCh38 |
| NC_000001.10:g.216243864_216243868del , CM000663.1:g.216243864_216243868del | GRCh37 |
| NC_000001.9:g.214310487_214310491del | NCBI36 |
| NG_009497.1:g.357873_357877del | |
| NG_009497.2:g.357925_357929del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.5858-232_5858-228del MANE Select | ENSP00000305941.3:n.5858-232_5858-228del | |
| ENST00000674083.1:c.5858-232_5858-228del | ENSP00000501296.1:n.5858-232_5858-228del | |
| ENST00000307340.7:c.5858-232_5858-228del | ENSP00000305941.3:n.5858-232_5858-228del | |
| NM_206933.2:c.5858-232_5858-228del | NP_996816.2:n.5858-232_5858-228del | |
| NM_206933.3:c.5858-232_5858-228del | NP_996816.2:n.5858-232_5858-228del | |
| NM_206933.4:c.5858-232_5858-228del MANE Select | NP_996816.3:n.5858-232_5858-228del |