Linked Data
dbSNP Id:
rs782792445
ExAC:
X:115303719 TA / T
gnomAD v2:
X-115303719-TA-T
gnomAD v4:
X-116172466-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.116172467del , CM000685.2:g.116172467del | GRCh38 |
| NC_000023.10:g.115303720del , CM000685.1:g.115303720del | GRCh37 |
| NC_000023.9:g.115217748del | NCBI36 |
| NG_016326.1:g.6763del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371906.5:c.187del MANE Select | ENSP00000360973.4:p.Ile63LeufsTer? | |
| ENST00000680409.1:n.655del | ||
| ENST00000681852.1:c.187del | ENSP00000505750.1:p.Ile63LeufsTer? | |
| ENST00000371906.4:c.187del | ENSP00000360973.4:p.Ile63LeufsTer? | |
| NM_000686.4:c.187del | NP_000677.2:p.Ile63LeufsTer? | |
| XM_011537533.1:c.187del | XP_011535835.1:p.Ile63LeufsTer? | |
| NM_000686.5:c.187del MANE Select | NP_000677.2:p.Ile63LeufsTer? | |
| NM_001385624.1:c.187del | NP_001372553.1:p.Ile63LeufsTer? |