Linked Data
dbSNP Id:
rs1571892071
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431404_229431405del , CM000663.2:g.229431404_229431405del | GRCh38 |
| NC_000001.10:g.229567151_229567152del , CM000663.1:g.229567151_229567152del | GRCh37 |
| NC_000001.9:g.227633774_227633775del | NCBI36 |
| NG_006672.1:g.7693_7694del , LRG_429:g.7693_7694del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.*95_*96del | ENSP00000355644.4:n.*95_*96del | |
| ENST00000684723.1:c.*95_*96del | ENSP00000508084.1:n.*95_*96del | |
| ENST00000366683.3:c.*95_*96del | ENSP00000355644.3:n.*95_*96del | |
| ENST00000366684.7:c.*95_*96del MANE Select | ENSP00000355645.3:n.*95_*96del | |
| NM_001100.3:c.*95_*96del , LRG_429t1:c.*95_*96del | NP_001091.1:n.*95_*96del | |
| NM_001100.4:c.*95_*96del MANE Select | NP_001091.1:n.*95_*96del |