Linked Data
ClinVar Variation Id:
222949
ClinVar RCV Id:
RCV000208569
dbSNP Id:
rs869025567
MyVariant Identifiers:
chr1:g.150482029_150482030delinsTT (hg19)
chr1:g.150509553_150509554delinsTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150509553_150509554delinsTT , CM000663.2:g.150509553_150509554delinsTT | GRCh38 |
| NC_000001.10:g.150482029_150482030delinsTT , CM000663.1:g.150482029_150482030delinsTT | GRCh37 |
| NC_000001.9:g.148748653_148748654delinsTT | NCBI36 |
| NG_012062.1:g.6543_6544delinsTT | |
| NG_034226.1:g.27190_27191delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369047.9:c.93_94delinsTT MANE Select | ENSP00000358043.4:p.Arg31SerfsTer2 | |
| ENST00000346569.6:c.93_94delinsTT | ENSP00000271630.6:p.Arg31SerfsTer2 | |
| ENST00000369047.8:c.93_94delinsTT | ENSP00000358043.4:p.Arg31SerfsTer2 | |
| ENST00000369049.8:c.93_94delinsTT | ENSP00000358045.4:p.Arg31SerfsTer2 | |
| ENST00000470432.5:n.241_242delinsTT | ||
| ENST00000490346.1:n.81_82delinsTT | ||
| ENST00000496744.5:n.209_210delinsTT | ||
| ENST00000498579.5:n.221_222delinsTT | ||
| NM_001202858.1:c.93_94delinsTT | NP_001189787.1:p.Arg31SerfsTer2 | |
| NM_004425.3:c.93_94delinsTT | NP_004416.2:p.Arg31SerfsTer2 | |
| NM_022664.2:c.93_94delinsTT | NP_073155.2:p.Arg31SerfsTer2 | |
| XR_922130.1:n.652+664_652+665delinsAA | ||
| NM_004425.4:c.93_94delinsTT MANE Select | NP_004416.2:p.Arg31SerfsTer2 | |
| NM_001202858.2:c.93_94delinsTT | NP_001189787.1:p.Arg31SerfsTer2 | |
| NM_022664.3:c.93_94delinsTT | NP_073155.2:p.Arg31SerfsTer2 |