Linked Data
ClinVar Variation Id:
13174
dbSNP Id:
rs672601326
MyVariant Identifiers:
chr6:g.42689652_42689655dupAGTA (hg19)
chr6:g.42689651_42689652insAGTA (hg19)
chr6:g.42721914_42721917dupAGTA (hg38)
chr6:g.42721913_42721914insAGTA (hg38)
PubMed:
PMID:7710395
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42721914_42721917dup , CM000668.2:g.42721914_42721917dup | GRCh38 |
| NC_000006.11:g.42689652_42689655dup , CM000668.1:g.42689652_42689655dup | GRCh37 |
| NC_000006.10:g.42797630_42797633dup | NCBI36 |
| NG_009176.1:g.5704_5707dup | |
| NG_009176.2:g.5704_5707dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.418_421dup MANE Select | ENSP00000230381.5:p.Tyr141LeufsTer? | |
| ENST00000230381.6:c.418_421dup | ENSP00000230381.5:p.Tyr141LeufsTer? | |
| NM_000322.4:c.418_421dup | NP_000313.2:p.Tyr141LeufsTer? | |
| XR_427834.2:n.1073_1076dup | ||
| XR_926295.1:n.1073_1076dup | ||
| XR_427834.4:n.1123_1126dup | ||
| XR_926295.3:n.1123_1126dup | ||
| NM_000322.5:c.418_421dup MANE Select | NP_000313.2:p.Tyr141LeufsTer? |