Linked Data
ClinVar Variation Id:
3012048
ClinVar RCV Id:
RCV003873111
dbSNP Id:
rs1214978129
gnomAD v3:
22-50526045-A-AC
gnomAD v4:
22-50526045-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50526050dup , CM000684.2:g.50526050dup | GRCh38 |
| NC_000022.10:g.50964479dup , CM000684.1:g.50964479dup | GRCh37 |
| NC_000022.9:g.49311345dup | NCBI36 |
| NG_011860.1:g.9040dup , LRG_727:g.9040dup | |
| NG_016235.1:g.5394dup | |
| NG_021419.1:g.22835dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252029.8:c.1255dup (TYMP) MANE Select | ENSP00000252029.3:p.Val419GlyfsTer? | |
| ENST00000395680.6:c.1255dup (TYMP) | ENSP00000379037.1:p.Val419GlyfsTer? | |
| ENST00000395681.6:c.1270dup (TYMP) | ENSP00000379038.1:p.Val424GlyfsTer? | |
| ENST00000543927.6:c.-14+200dup (SCO2) | ENSP00000444433.1:n.-14+200dup | |
| ENST00000638598.2:c.-59dup (SCO2) | ENSP00000491753.2:n.-59dup | |
| ENST00000651490.1:c.93-128dup (TYMP) | ||
| ENST00000652401.1:c.756dup (TYMP) | ||
| ENST00000252029.7:c.1255dup (TYMP) | ENSP00000252029.3:p.Val419GlyfsTer? | |
| ENST00000395678.7:c.1255dup (TYMP) | ENSP00000379036.3:p.Val419GlyfsTer? | |
| ENST00000395680.5:c.1255dup (TYMP) | ENSP00000379037.1:p.Val419GlyfsTer? | |
| ENST00000395681.5:c.1270dup (TYMP) | ENSP00000379038.1:p.Val424GlyfsTer? | |
| ENST00000423348.1:c.-14+200dup | ENSP00000403570.1:n.-14+200dup | |
| ENST00000425169.1:c.1156dup (TYMP) | ENSP00000395875.1:p.Val386GlyfsTer? | |
| ENST00000439934.5:c.-59dup | ENSP00000415642.1:n.-59dup | |
| ENST00000476284.1:n.1365dup (TYMP) | ||
| ENST00000487577.5:n.1542dup (TYMP) | ||
| ENST00000535425.5:c.-59dup | ENSP00000444242.1:n.-59dup | |
| ENST00000543927.5:c.-14+200dup | ENSP00000444433.1:n.-14+200dup | |
| NM_001113755.2:c.1255dup (TYMP) | NP_001107227.1:p.Val419GlyfsTer? | |
| NM_001113756.2:c.1255dup (TYMP) | NP_001107228.1:p.Val419GlyfsTer? | |
| NM_001169109.1:c.-14+200dup (SCO2) | NP_001162580.1:n.-14+200dup | |
| NM_001169110.1:c.-59dup (SCO2) | NP_001162581.1:n.-59dup | |
| NM_001257988.1:c.1255dup , LRG_727t1:c.1255dup (TYMP) | NP_001244917.1:p.Val419GlyfsTer? | |
| NM_001257989.1:c.1270dup , LRG_727t2:c.1270dup (TYMP) | NP_001244918.1:p.Val424GlyfsTer? | |
| NM_001953.4:c.1255dup (TYMP) | NP_001944.1:p.Val419GlyfsTer? | |
| NM_001113755.3:c.1255dup (TYMP) | NP_001107227.1:p.Val419GlyfsTer? | |
| NM_001113756.3:c.1255dup (TYMP) | NP_001107228.1:p.Val419GlyfsTer? | |
| NM_001953.5:c.1255dup (TYMP) MANE Select | NP_001944.1:p.Val419GlyfsTer? | |
| NM_001169109.2:c.-14+200dup (SCO2) | NP_001162580.1:n.-14+200dup |