Linked Data
dbSNP Id:
rs63751491
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177081_177089del , CM000678.2:g.177081_177089del | GRCh38 |
| NC_000016.9:g.227080_227088del , CM000678.1:g.227080_227088del | GRCh37 |
| NC_000016.8:g.167080_167088del | NCBI36 |
| NG_000006.1:g.37944_37952del | |
| NG_059186.1:g.5431_5439del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.248_256del MANE Select | ENSP00000322421.5:p.Ala83_Ser85del | |
| ENST00000397797.1:c.152_160del | ENSP00000380899.1:p.Ala51_Ser53del | |
| ENST00000472694.1:n.384_392del | ||
| ENST00000487791.1:n.217_225del | ||
| NM_000558.4:c.248_256del | NP_000549.1:p.Ala83_Ser85del | |
| NM_000558.5:c.248_256del MANE Select | NP_000549.1:p.Ala83_Ser85del |