Linked Data
dbSNP Id:
rs1348013120
gnomAD v4:
X-116172631-CAA-C
MyVariant Identifiers:
chrX:g.116172632_116172633del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.116172633_116172634del , CM000685.2:g.116172633_116172634del | GRCh38 |
| NC_000023.10:g.115303886_115303887del , CM000685.1:g.115303886_115303887del | GRCh37 |
| NC_000023.9:g.115217914_115217915del | NCBI36 |
| NG_016326.1:g.6929_6930del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371906.5:c.353_354del MANE Select | ENSP00000360973.4:p.Lys118SerfsTer23 | |
| ENST00000680409.1:n.821_822del | ||
| ENST00000681852.1:c.353_354del | ENSP00000505750.1:p.Lys118SerfsTer23 | |
| ENST00000371906.4:c.353_354del | ENSP00000360973.4:p.Lys118SerfsTer23 | |
| NM_000686.4:c.353_354del | NP_000677.2:p.Lys118SerfsTer23 | |
| XM_011537533.1:c.353_354del | XP_011535835.1:p.Lys118SerfsTer23 | |
| NM_000686.5:c.353_354del MANE Select | NP_000677.2:p.Lys118SerfsTer23 | |
| NM_001385624.1:c.353_354del | NP_001372553.1:p.Lys118SerfsTer23 |