Linked Data
ClinVar Variation Id:
17013
dbSNP Id:
rs886037624
MyVariant Identifiers:
chr13:g.20763659_20763670delinsT (hg19)
chr13:g.20189520_20189531delinsT (hg38)
PubMed:
PMID:10982182
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189520_20189531delinsT , CM000675.2:g.20189520_20189531delinsT | GRCh38 |
| NC_000013.10:g.20763659_20763670delinsT , CM000675.1:g.20763659_20763670delinsT | GRCh37 |
| NC_000013.9:g.19661659_19661670delinsT | NCBI36 |
| NG_008358.1:g.8445_8456delinsA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382844.2:c.51_62delinsA | ENSP00000372295.1:p.Thr18LysfsTer26 | |
| ENST00000382848.5:c.51_62delinsA MANE Select | ENSP00000372299.4:p.Thr18LysfsTer26 | |
| ENST00000382844.1:c.51_62delinsA | ENSP00000372295.1:p.Thr18LysfsTer26 | |
| ENST00000382848.4:c.51_62delinsA | ENSP00000372299.4:p.Thr18LysfsTer26 | |
| NM_004004.5:c.51_62delinsA | NP_003995.2:p.Thr18LysfsTer26 | |
| XM_011535049.1:c.51_62delinsA | XP_011533351.1:p.Thr18LysfsTer26 | |
| XM_011535049.2:c.51_62delinsA | XP_011533351.1:p.Thr18LysfsTer26 | |
| NM_004004.6:c.51_62delinsA MANE Select | NP_003995.2:p.Thr18LysfsTer26 |