Linked Data
ClinVar Variation Id:
550473
ClinVar RCV Id:
RCV000665228
dbSNP Id:
rs1555341949
MyVariant Identifiers:
chr13:g.20189325del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189325del , CM000675.2:g.20189325del | GRCh38 |
| NC_000013.10:g.20763464del , CM000675.1:g.20763464del | GRCh37 |
| NC_000013.9:g.19661464del | NCBI36 |
| NG_008358.1:g.8651del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.257del | ENSP00000372295.1:p.Thr86SerfsTer5 | |
| ENST00000382848.5:c.257del MANE Select | ENSP00000372299.4:p.Thr86SerfsTer5 | |
| ENST00000382844.1:c.257del | ENSP00000372295.1:p.Thr86SerfsTer5 | |
| ENST00000382848.4:c.257del | ENSP00000372299.4:p.Thr86SerfsTer5 | |
| NM_004004.5:c.257del | NP_003995.2:p.Thr86SerfsTer5 | |
| XM_011535049.1:c.257del | XP_011533351.1:p.Thr86SerfsTer5 | |
| XM_011535049.2:c.257del | XP_011533351.1:p.Thr86SerfsTer5 | |
| NM_004004.6:c.257del MANE Select | NP_003995.2:p.Thr86SerfsTer5 |