Linked Data
ClinVar Variation Id:
223085
ClinVar RCV Id:
RCV000208678
dbSNP Id:
rs1064792889
gnomAD v4:
22-50525907-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50525909del , CM000684.2:g.50525909del | GRCh38 |
| NC_000022.10:g.50964338del , CM000684.1:g.50964338del | GRCh37 |
| NC_000022.9:g.49311204del | NCBI36 |
| NG_011860.1:g.9178del , LRG_727:g.9178del | |
| NG_016235.1:g.5532del | |
| NG_021419.1:g.22694del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252029.8:c.1311del (TYMP) MANE Select | ENSP00000252029.3:p.Trp437CysfsTer? | |
| ENST00000395680.6:c.1311del (TYMP) | ENSP00000379037.1:p.Trp437CysfsTer? | |
| ENST00000395681.6:c.1326del (TYMP) | ENSP00000379038.1:p.Trp442CysfsTer? | |
| ENST00000543927.6:c.-14+338del (SCO2) | ENSP00000444433.1:n.-14+338del | |
| ENST00000638598.2:c.-14+93del (SCO2) | ENSP00000491753.2:n.-14+93del | |
| ENST00000651490.1:c.103del (TYMP) | ||
| ENST00000652401.1:c.812del (TYMP) | ||
| ENST00000252029.7:c.1311del (TYMP) | ENSP00000252029.3:p.Trp437CysfsTer? | |
| ENST00000395678.7:c.1311del (TYMP) | ENSP00000379036.3:p.Trp437CysfsTer? | |
| ENST00000395680.5:c.1311del (TYMP) | ENSP00000379037.1:p.Trp437CysfsTer? | |
| ENST00000395681.5:c.1326del (TYMP) | ENSP00000379038.1:p.Trp442CysfsTer? | |
| ENST00000423348.1:c.-14+338del | ENSP00000403570.1:n.-14+338del | |
| ENST00000425169.1:c.1212del (TYMP) | ENSP00000395875.1:p.Trp404CysfsTer? | |
| ENST00000439934.5:c.-14+93del | ENSP00000415642.1:n.-14+93del | |
| ENST00000476284.1:n.1421del (TYMP) | ||
| ENST00000487577.5:n.1598del (TYMP) | ||
| ENST00000535425.5:c.-14+93del | ENSP00000444242.1:n.-14+93del | |
| ENST00000543927.5:c.-14+338del | ENSP00000444433.1:n.-14+338del | |
| NM_001113755.2:c.1311del (TYMP) | NP_001107227.1:p.Trp437CysfsTer? | |
| NM_001113756.2:c.1311del (TYMP) | NP_001107228.1:p.Trp437CysfsTer? | |
| NM_001169109.1:c.-14+338del (SCO2) | NP_001162580.1:n.-14+338del | |
| NM_001169110.1:c.-14+93del (SCO2) | NP_001162581.1:n.-14+93del | |
| NM_001257988.1:c.1311del , LRG_727t1:c.1311del (TYMP) | NP_001244917.1:p.Trp437CysfsTer? | |
| NM_001257989.1:c.1326del , LRG_727t2:c.1326del (TYMP) | NP_001244918.1:p.Trp442CysfsTer? | |
| NM_001953.4:c.1311del (TYMP) | NP_001944.1:p.Trp437CysfsTer? | |
| NM_001113755.3:c.1311del (TYMP) | NP_001107227.1:p.Trp437CysfsTer? | |
| NM_001113756.3:c.1311del (TYMP) | NP_001107228.1:p.Trp437CysfsTer? | |
| NM_001953.5:c.1311del (TYMP) MANE Select | NP_001944.1:p.Trp437CysfsTer? | |
| NM_001169109.2:c.-14+338del (SCO2) | NP_001162580.1:n.-14+338del |