Linked Data
dbSNP Id:
rs2069338830
gnomAD v3:
22-50525915-G-GTCCCTGCAGAGCGAGGGGC
gnomAD v4:
22-50525915-G-GTCCCTGCAGAGCGAGGGGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50525917_50525935dup , CM000684.2:g.50525917_50525935dup | GRCh38 |
| NC_000022.10:g.50964346_50964364dup , CM000684.1:g.50964346_50964364dup | GRCh37 |
| NC_000022.9:g.49311212_49311230dup | NCBI36 |
| NG_011860.1:g.9152_9170dup , LRG_727:g.9152_9170dup | |
| NG_016235.1:g.5506_5524dup | |
| NG_021419.1:g.22702_22720dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252029.8:c.1301-16_1303dup (TYMP) | ||
| ENST00000395680.6:c.1301-16_1303dup (TYMP) | ||
| ENST00000395681.6:c.1316-16_1318dup (TYMP) | ||
| ENST00000543927.6:c.-14+312_-14+330dup (SCO2) | ENSP00000444433.1:n.-14+312_-14+330dup | |
| ENST00000638598.2:c.-14+67_-14+85dup (SCO2) | ENSP00000491753.2:n.-14+67_-14+85dup | |
| ENST00000651490.1:c.93-16_95dup (TYMP) | ||
| ENST00000652401.1:c.802-16_804dup (TYMP) | ||
| ENST00000252029.7:c.1301-16_1303dup (TYMP) | ||
| ENST00000395678.7:c.1301-16_1303dup (TYMP) | ||
| ENST00000395680.5:c.1301-16_1303dup (TYMP) | ||
| ENST00000395681.5:c.1316-16_1318dup (TYMP) | ||
| ENST00000423348.1:c.-14+312_-14+330dup | ENSP00000403570.1:n.-14+312_-14+330dup | |
| ENST00000425169.1:c.1202-16_1204dup (TYMP) | ||
| ENST00000439934.5:c.-14+67_-14+85dup | ENSP00000415642.1:n.-14+67_-14+85dup | |
| ENST00000476284.1:n.1411-16_1413dup (TYMP) | ||
| ENST00000487577.5:n.1588-16_1590dup (TYMP) | ||
| ENST00000535425.5:c.-14+67_-14+85dup | ENSP00000444242.1:n.-14+67_-14+85dup | |
| ENST00000543927.5:c.-14+312_-14+330dup | ENSP00000444433.1:n.-14+312_-14+330dup | |
| NM_001113755.2:c.1301-16_1303dup (TYMP) | ||
| NM_001113756.2:c.1301-16_1303dup (TYMP) | ||
| NM_001169109.1:c.-14+312_-14+330dup (SCO2) | NP_001162580.1:n.-14+312_-14+330dup | |
| NM_001169110.1:c.-14+67_-14+85dup (SCO2) | NP_001162581.1:n.-14+67_-14+85dup | |
| NM_001257988.1:c.1301-16_1303dup , LRG_727t1:c.1301-16_1303dup (TYMP) | ||
| NM_001257989.1:c.1316-16_1318dup , LRG_727t2:c.1316-16_1318dup (TYMP) | ||
| NM_001953.4:c.1301-16_1303dup (TYMP) | ||
| NM_001113755.3:c.1301-16_1303dup (TYMP) | ||
| NM_001113756.3:c.1301-16_1303dup (TYMP) | ||
| NM_001953.5:c.1301-16_1303dup (TYMP) | ||
| NM_001169109.2:c.-14+312_-14+330dup (SCO2) | NP_001162580.1:n.-14+312_-14+330dup |