Linked Data
ClinVar Variation Id:
11148
ClinVar RCV Id:
RCV000011898
dbSNP Id:
rs132630263
MyVariant Identifiers:
chrX:g.85155705_85155706delinsTC (hg19)
chrX:g.85900700_85900701delinsTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.85900700_85900701delinsTC , CM000685.2:g.85900700_85900701delinsTC | GRCh38 |
| NC_000023.10:g.85155705_85155706delinsTC , CM000685.1:g.85155705_85155706delinsTC | GRCh37 |
| NC_000023.9:g.85042361_85042362delinsTC | NCBI36 |
| NG_009874.2:g.151862_151863delinsGA , LRG_699:g.151862_151863delinsGA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357749.7:c.1358_1359delinsGA MANE Select | ENSP00000350386.2:p.Ser453Ter | |
| ENST00000357749.6:c.1358_1359delinsGA | ENSP00000350386.2:p.Ser453Ter | |
| ENST00000467744.2:n.127-37607_127-37606delinsGA | ||
| NM_000390.2:c.1358_1359delinsGA , LRG_699t1:c.1358_1359delinsGA | NP_000381.1:p.Ser453Ter | |
| XM_006724615.2:c.1295_1296delinsGA | XP_006724678.1:p.Ser432Ter | |
| XM_011530839.1:c.914_915delinsGA | XP_011529141.1:p.Ser305Ter | |
| NM_000390.3:c.1358_1359delinsGA | NP_000381.1:p.Ser453Ter | |
| NM_001320959.1:c.914_915delinsGA | NP_001307888.1:p.Ser305Ter | |
| NM_001362517.1:c.914_915delinsGA | NP_001349446.1:p.Ser305Ter | |
| NM_001362518.1:c.914_915delinsGA | NP_001349447.1:p.Ser305Ter | |
| NM_001362519.1:c.914_915delinsGA | NP_001349448.1:p.Ser305Ter | |
| XM_017029242.2:c.1358_1359delinsGA | XP_016884731.1:p.Ser453Ter | |
| XM_017029246.1:c.914_915delinsGA | XP_016884735.1:p.Ser305Ter | |
| XM_024452331.1:c.914_915delinsGA | XP_024308099.1:p.Ser305Ter | |
| NM_000390.4:c.1358_1359delinsGA MANE Select | NP_000381.1:p.Ser453Ter | |
| NM_001362518.2:c.914_915delinsGA | NP_001349447.1:p.Ser305Ter |