Linked Data
ClinVar Variation Id:
10871
ClinVar RCV Id:
RCV000011618
dbSNP Id:
rs606231184
ExAC:
X:19377757 AAGTC / A
gnomAD v2:
X-19377757-AAGTC-A
gnomAD v4:
X-19359639-AAGTC-A
MyVariant Identifiers:
chrX:g.19377765_19377768del (hg19)
chrX:g.19377758_19377761del (hg19)
chrX:g.19359647_19359650del (hg38)
chrX:g.19359640_19359643del (hg38)
PubMed:
PMID:2537010
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19359647_19359650del , CM000685.2:g.19359647_19359650del | GRCh38 |
| NC_000023.10:g.19377765_19377768del , CM000685.1:g.19377765_19377768del | GRCh37 |
| NC_000023.9:g.19287686_19287689del | NCBI36 |
| NG_016781.1:g.20755_20758del | |
| NG_021184.1:g.160619_160622del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355808.10:c.1188_1191del | ENSP00000348062.6:p.Ser397LysfsTer? | |
| ENST00000379805.4:c.*859_*862del | ENSP00000369133.3:n.*859_*862del | |
| ENST00000417819.6:c.1251_1254del | ENSP00000404616.2:p.Ser418LysfsTer? | |
| ENST00000423505.6:c.1281_1284del | ENSP00000406473.2:p.Ser428LysfsTer? | |
| ENST00000481733.2:n.962_965del | ||
| ENST00000696704.1:c.*499_*502del | ENSP00000512823.1:n.*499_*502del | |
| ENST00000696705.1:c.*622_*625del | ENSP00000512824.1:n.*622_*625del | |
| ENST00000422285.7:c.1167_1170del MANE Select | ENSP00000394382.2:p.Ser390LysfsTer? | |
| ENST00000379804.1:c.324_327del | ENSP00000369132.1:p.Ser109LysfsTer? | |
| ENST00000379806.9:c.1281_1284del | ENSP00000369134.5:p.Ser428LysfsTer? | |
| ENST00000422285.6:c.1167_1170del | ENSP00000394382.2:p.Ser390LysfsTer? | |
| ENST00000478795.1:n.606_609del | ||
| ENST00000540249.5:c.1074_1077del | ENSP00000440761.1:p.Ser359LysfsTer? | |
| ENST00000545074.5:c.1188_1191del | ENSP00000438550.1:p.Ser397LysfsTer? | |
| NM_000284.3:c.1167_1170del | NP_000275.1:p.Ser390LysfsTer? | |
| NM_001173454.1:c.1281_1284del | NP_001166925.1:p.Ser428LysfsTer? | |
| NM_001173455.1:c.1188_1191del | NP_001166926.1:p.Ser397LysfsTer? | |
| NM_001173456.1:c.1074_1077del | NP_001166927.1:p.Ser359LysfsTer? | |
| XM_011545531.1:c.1302_1305del | XP_011543833.1:p.Ser435LysfsTer? | |
| XM_011545532.1:c.1209_1212del | XP_011543834.1:p.Ser404LysfsTer? | |
| XM_017029574.2:c.1188_1191del | XP_016885063.1:p.Ser397LysfsTer? | |
| NM_000284.4:c.1167_1170del MANE Select | NP_000275.1:p.Ser390LysfsTer? | |
| NM_001173454.2:c.1281_1284del | NP_001166925.1:p.Ser428LysfsTer? | |
| NM_001173455.2:c.1188_1191del | NP_001166926.1:p.Ser397LysfsTer? | |
| NM_001173456.2:c.1074_1077del | NP_001166927.1:p.Ser359LysfsTer? |