Linked Data
dbSNP Id:
rs746071566
gnomAD v2:
13-48611918-A-AGGAGTCGGAGTC
gnomAD v4:
13-48037782-A-AGGAGTCGGAGTC
MyVariant Identifiers:
chr13:g.48611924_48611925insGGAGTCGGAGTC (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48037790_48037801dup , CM000675.2:g.48037790_48037801dup | GRCh38 |
| NC_000013.10:g.48611926_48611937dup , CM000675.1:g.48611926_48611937dup | GRCh37 |
| NC_000013.9:g.47509927_47509938dup | NCBI36 |
| NG_047021.1:g.5224_5235dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258662.3:c.44_55dup (NUDT15) MANE Select | ENSP00000258662.1:p.Val18_Val19insGlyValG... | |
| ENST00000643246.1:c.-351_-340dup (SUCLA2) | ENSP00000496235.1:n.-351_-340dup | |
| ENST00000646804.1:c.-273_-262dup (SUCLA2) | ENSP00000493977.1:n.-273_-262dup | |
| ENST00000258662.2:c.44_55dup (NUDT15) | ENSP00000258662.1:p.Val18_Val19insGlyValG... | |
| NM_001304745.1:c.44_55dup (NUDT15) | NP_001291674.1:p.Val18_Val19insGlyValGlyV... | |
| NM_018283.2:c.44_55dup (NUDT15) | NP_060753.1:p.Val18_Val19insGlyValGlyVal | |
| NM_018283.3:c.44_55dup (NUDT15) | NP_060753.1:p.Val18_Val19insGlyValGlyVal | |
| NR_136687.1:n.224_235dup (NUDT15) | ||
| NR_136688.1:n.224_235dup (NUDT15) | ||
| NM_018283.4:c.44_55dup (NUDT15) MANE Select | NP_060753.1:p.Val18_Val19insGlyValGlyVal | |
| NM_001304745.2:c.44_55dup (NUDT15) | NP_001291674.1:p.Val18_Val19insGlyValGlyV... | |
| NR_136687.2:n.65_76dup (NUDT15) | ||
| NR_136688.2:n.65_76dup (NUDT15) |