Linked Data
ClinVar Variation Id:
554264
ClinVar RCV Id:
RCV000669866
dbSNP Id:
rs1471478620
gnomAD v2:
22-50964339-A-AG
gnomAD v4:
22-50525910-A-AG
MyVariant Identifiers:
chr22:g.50964339_50964340insG (hg19)
chr22:g.50525911dup (hg38)
chr22:g.50525910_50525911insG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50525915dup , CM000684.2:g.50525915dup | GRCh38 |
| NC_000022.10:g.50964344dup , CM000684.1:g.50964344dup | GRCh37 |
| NC_000022.9:g.49311210dup | NCBI36 |
| NG_011860.1:g.9175dup , LRG_727:g.9175dup | |
| NG_016235.1:g.5529dup | |
| NG_021419.1:g.22700dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252029.8:c.1308dup (TYMP) MANE Select | ENSP00000252029.3:p.Trp437LeufsTer? | |
| ENST00000395680.6:c.1308dup (TYMP) | ENSP00000379037.1:p.Trp437LeufsTer? | |
| ENST00000395681.6:c.1323dup (TYMP) | ENSP00000379038.1:p.Trp442LeufsTer? | |
| ENST00000543927.6:c.-14+335dup (SCO2) | ENSP00000444433.1:n.-14+335dup | |
| ENST00000638598.2:c.-14+90dup (SCO2) | ENSP00000491753.2:n.-14+90dup | |
| ENST00000651490.1:c.100dup (TYMP) | ||
| ENST00000652401.1:c.809dup (TYMP) | ||
| ENST00000252029.7:c.1308dup (TYMP) | ENSP00000252029.3:p.Trp437LeufsTer? | |
| ENST00000395678.7:c.1308dup (TYMP) | ENSP00000379036.3:p.Trp437LeufsTer? | |
| ENST00000395680.5:c.1308dup (TYMP) | ENSP00000379037.1:p.Trp437LeufsTer? | |
| ENST00000395681.5:c.1323dup (TYMP) | ENSP00000379038.1:p.Trp442LeufsTer? | |
| ENST00000423348.1:c.-14+335dup | ENSP00000403570.1:n.-14+335dup | |
| ENST00000425169.1:c.1209dup (TYMP) | ENSP00000395875.1:p.Trp404LeufsTer? | |
| ENST00000439934.5:c.-14+90dup | ENSP00000415642.1:n.-14+90dup | |
| ENST00000476284.1:n.1418dup (TYMP) | ||
| ENST00000487577.5:n.1595dup (TYMP) | ||
| ENST00000535425.5:c.-14+90dup | ENSP00000444242.1:n.-14+90dup | |
| ENST00000543927.5:c.-14+335dup | ENSP00000444433.1:n.-14+335dup | |
| NM_001113755.2:c.1308dup (TYMP) | NP_001107227.1:p.Trp437LeufsTer? | |
| NM_001113756.2:c.1308dup (TYMP) | NP_001107228.1:p.Trp437LeufsTer? | |
| NM_001169109.1:c.-14+335dup (SCO2) | NP_001162580.1:n.-14+335dup | |
| NM_001169110.1:c.-14+90dup (SCO2) | NP_001162581.1:n.-14+90dup | |
| NM_001257988.1:c.1308dup , LRG_727t1:c.1308dup (TYMP) | NP_001244917.1:p.Trp437LeufsTer? | |
| NM_001257989.1:c.1323dup , LRG_727t2:c.1323dup (TYMP) | NP_001244918.1:p.Trp442LeufsTer? | |
| NM_001953.4:c.1308dup (TYMP) | NP_001944.1:p.Trp437LeufsTer? | |
| NM_001113755.3:c.1308dup (TYMP) | NP_001107227.1:p.Trp437LeufsTer? | |
| NM_001113756.3:c.1308dup (TYMP) | NP_001107228.1:p.Trp437LeufsTer? | |
| NM_001953.5:c.1308dup (TYMP) MANE Select | NP_001944.1:p.Trp437LeufsTer? | |
| NM_001169109.2:c.-14+335dup (SCO2) | NP_001162580.1:n.-14+335dup |