Linked Data
ClinVar Variation Id:
223086
dbSNP Id:
rs1064792890
gnomAD v4:
22-50525872-GCCGCTGAGCGCGGGGCCGTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50525876_50525895del , CM000684.2:g.50525876_50525895del | GRCh38 |
| NC_000022.10:g.50964305_50964324del , CM000684.1:g.50964305_50964324del | GRCh37 |
| NC_000022.9:g.49311171_49311190del | NCBI36 |
| NG_011860.1:g.9194_9213del , LRG_727:g.9194_9213del | |
| NG_016235.1:g.5548_5567del | |
| NG_021419.1:g.22661_22680del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252029.8:c.1327_1346del (TYMP) MANE Select | ENSP00000252029.3:p.Asp443ProfsTer? | |
| ENST00000395680.6:c.1327_1346del (TYMP) | ENSP00000379037.1:p.Asp443ProfsTer? | |
| ENST00000395681.6:c.1342_1361del (TYMP) | ENSP00000379038.1:p.Asp448ProfsTer? | |
| ENST00000543927.6:c.-14+354_-14+373del (SCO2) | ENSP00000444433.1:n.-14+354_-14+373del | |
| ENST00000638598.2:c.-14+109_-14+128del (SCO2) | ENSP00000491753.2:n.-14+109_-14+128del | |
| ENST00000651490.1:c.119_138del (TYMP) | ||
| ENST00000652401.1:c.828_847del (TYMP) | ||
| ENST00000252029.7:c.1327_1346del (TYMP) | ENSP00000252029.3:p.Asp443ProfsTer? | |
| ENST00000395678.7:c.1327_1346del (TYMP) | ENSP00000379036.3:p.Asp443ProfsTer? | |
| ENST00000395680.5:c.1327_1346del (TYMP) | ENSP00000379037.1:p.Asp443ProfsTer? | |
| ENST00000395681.5:c.1342_1361del (TYMP) | ENSP00000379038.1:p.Asp448ProfsTer? | |
| ENST00000423348.1:c.-14+354_-14+373del | ENSP00000403570.1:n.-14+354_-14+373del | |
| ENST00000425169.1:c.1228_1247del (TYMP) | ENSP00000395875.1:p.Asp410ProfsTer? | |
| ENST00000439934.5:c.-14+109_-14+128del | ENSP00000415642.1:n.-14+109_-14+128del | |
| ENST00000476284.1:n.1437_1456del (TYMP) | ||
| ENST00000487577.5:n.1614_1633del (TYMP) | ||
| ENST00000535425.5:c.-14+109_-14+128del | ENSP00000444242.1:n.-14+109_-14+128del | |
| ENST00000543927.5:c.-14+354_-14+373del | ENSP00000444433.1:n.-14+354_-14+373del | |
| NM_001113755.2:c.1327_1346del (TYMP) | NP_001107227.1:p.Asp443ProfsTer? | |
| NM_001113756.2:c.1327_1346del (TYMP) | NP_001107228.1:p.Asp443ProfsTer? | |
| NM_001169109.1:c.-14+354_-14+373del (SCO2) | NP_001162580.1:n.-14+354_-14+373del | |
| NM_001169110.1:c.-14+109_-14+128del (SCO2) | NP_001162581.1:n.-14+109_-14+128del | |
| NM_001257988.1:c.1327_1346del , LRG_727t1:c.1327_1346del (TYMP) | NP_001244917.1:p.Asp443ProfsTer? | |
| NM_001257989.1:c.1342_1361del , LRG_727t2:c.1342_1361del (TYMP) | NP_001244918.1:p.Asp448ProfsTer? | |
| NM_001953.4:c.1327_1346del (TYMP) | NP_001944.1:p.Asp443ProfsTer? | |
| NM_001113755.3:c.1327_1346del (TYMP) | NP_001107227.1:p.Asp443ProfsTer? | |
| NM_001113756.3:c.1327_1346del (TYMP) | NP_001107228.1:p.Asp443ProfsTer? | |
| NM_001953.5:c.1327_1346del (TYMP) MANE Select | NP_001944.1:p.Asp443ProfsTer? | |
| NM_001169109.2:c.-14+354_-14+373del (SCO2) | NP_001162580.1:n.-14+354_-14+373del |