Linked Data
dbSNP Id:
rs1665604498
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192812255_192812258del , CM000663.2:g.192812255_192812258del | GRCh38 |
| NC_000001.10:g.192781385_192781388del , CM000663.1:g.192781385_192781388del | GRCh37 |
| NC_000001.9:g.191048008_191048011del | NCBI36 |
| NG_012800.1:g.8217_8220del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235382.7:c.*659_*662del MANE Select | ENSP00000235382.5:n.*659_*662del | |
| ENST00000235382.6:c.*659_*662del | ENSP00000235382.5:n.*659_*662del | |
| NM_002923.3:c.*659_*662del | NP_002914.1:n.*659_*662del | |
| NM_002923.4:c.*659_*662del MANE Select | NP_002914.1:n.*659_*662del |