Linked Data
ClinVar Variation Id:
210318
ClinVar RCV Id:
RCV000194939
dbSNP Id:
rs797045290
MyVariant Identifiers:
chrX:g.25025511_25025512insCTTTG (hg19)
chrX:g.25007394_25007395insCTTTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25007397_25007398insTGCTT , CM000685.2:g.25007397_25007398insTGCTT | GRCh38 |
| NC_000023.10:g.25025514_25025515insTGCTT , CM000685.1:g.25025514_25025515insTGCTT | GRCh37 |
| NC_000023.9:g.24935435_24935436insTGCTT | NCBI36 |
| NG_008281.1:g.13554_13555insCAAAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.1164_1165insCAAAG MANE Select | ENSP00000368332.4:p.Ala389GlnfsTer? | |
| ENST00000379044.4:c.1164_1165insCAAAG | ENSP00000368332.4:p.Ala389GlnfsTer? | |
| NM_139058.2:c.1164_1165insCAAAG | NP_620689.1:p.Ala389GlnfsTer? | |
| NM_139058.3:c.1164_1165insCAAAG MANE Select | NP_620689.1:p.Ala389GlnfsTer? |