Linked Data
ClinVar Variation Id:
223077
ClinVar RCV Id:
RCV000208688
dbSNP Id:
rs1064792885
gnomAD v4:
22-50525787-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50525789dup , CM000684.2:g.50525789dup | GRCh38 |
| NC_000022.10:g.50964218dup , CM000684.1:g.50964218dup | GRCh37 |
| NC_000022.9:g.49311084dup | NCBI36 |
| NG_011860.1:g.9298dup , LRG_727:g.9298dup | |
| NG_016235.1:g.5652dup | |
| NG_021419.1:g.22574dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252029.8:c.1431dup (TYMP) MANE Select | ENSP00000252029.3:p.Leu478SerfsTer? | |
| ENST00000395680.6:c.1431dup (TYMP) | ENSP00000379037.1:p.Leu478SerfsTer? | |
| ENST00000395681.6:c.1446dup (TYMP) | ENSP00000379038.1:p.Leu483SerfsTer? | |
| ENST00000543927.6:c.-14+458dup (SCO2) | ENSP00000444433.1:n.-14+458dup | |
| ENST00000638598.2:c.-14+213dup (SCO2) | ENSP00000491753.2:n.-14+213dup | |
| ENST00000651490.1:c.223dup (TYMP) | ||
| ENST00000252029.7:c.1431dup (TYMP) | ENSP00000252029.3:p.Leu478SerfsTer? | |
| ENST00000395678.7:c.1431dup (TYMP) | ENSP00000379036.3:p.Leu478SerfsTer? | |
| ENST00000395680.5:c.1431dup (TYMP) | ENSP00000379037.1:p.Leu478SerfsTer? | |
| ENST00000395681.5:c.1446dup (TYMP) | ENSP00000379038.1:p.Leu483SerfsTer? | |
| ENST00000423348.1:c.-14+458dup | ENSP00000403570.1:n.-14+458dup | |
| ENST00000425169.1:c.1332dup (TYMP) | ENSP00000395875.1:p.Leu445SerfsTer? | |
| ENST00000439934.5:c.-14+213dup | ENSP00000415642.1:n.-14+213dup | |
| ENST00000476284.1:n.1541dup (TYMP) | ||
| ENST00000487577.5:n.1718dup (TYMP) | ||
| ENST00000535425.5:c.-14+213dup | ENSP00000444242.1:n.-14+213dup | |
| ENST00000543927.5:c.-14+458dup | ENSP00000444433.1:n.-14+458dup | |
| NM_001113755.2:c.1431dup (TYMP) | NP_001107227.1:p.Leu478SerfsTer? | |
| NM_001113756.2:c.1431dup (TYMP) | NP_001107228.1:p.Leu478SerfsTer? | |
| NM_001169109.1:c.-14+458dup (SCO2) | NP_001162580.1:n.-14+458dup | |
| NM_001169110.1:c.-14+213dup (SCO2) | NP_001162581.1:n.-14+213dup | |
| NM_001257988.1:c.1431dup , LRG_727t1:c.1431dup (TYMP) | NP_001244917.1:p.Leu478SerfsTer? | |
| NM_001257989.1:c.1446dup , LRG_727t2:c.1446dup (TYMP) | NP_001244918.1:p.Leu483SerfsTer? | |
| NM_001953.4:c.1431dup (TYMP) | NP_001944.1:p.Leu478SerfsTer? | |
| NM_001113755.3:c.1431dup (TYMP) | NP_001107227.1:p.Leu478SerfsTer? | |
| NM_001113756.3:c.1431dup (TYMP) | NP_001107228.1:p.Leu478SerfsTer? | |
| NM_001953.5:c.1431dup (TYMP) MANE Select | NP_001944.1:p.Leu478SerfsTer? | |
| NM_001169109.2:c.-14+458dup (SCO2) | NP_001162580.1:n.-14+458dup |