Linked Data
ClinVar Variation Id:
126966
ClinVar RCV Id:
RCV002453425
dbSNP Id:
rs121908822
PubMed:
PMID:20154675
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96254977_96254980del , CM000664.2:g.96254977_96254980del | GRCh38 |
| NC_000002.11:g.96920715_96920718del , CM000664.1:g.96920715_96920718del | GRCh37 |
| NC_000002.10:g.96284442_96284445del | NCBI36 |
| NG_027695.1:g.16037_16040del , LRG_528:g.16037_16040del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258439.8:c.265_268del MANE Select | ENSP00000258439.3:p.Thr89CysfsTer? | |
| ENST00000258439.7:c.265_268del | ENSP00000258439.2:p.Thr89CysfsTer? | |
| ENST00000432959.1:c.265_268del | ENSP00000416660.1:p.Thr89CysfsTer? | |
| ENST00000435268.1:c.13_16del | ENSP00000411810.1:p.Thr5CysfsTer? | |
| NM_001193304.2:c.265_268del | NP_001180233.1:p.Thr89CysfsTer? | |
| NM_017849.3:c.265_268del , LRG_528t1:c.265_268del | NP_060319.1:p.Thr89CysfsTer? | |
| XM_017004450.1:c.-654_-651del | XP_016859939.1:n.-654_-651del | |
| XM_017004452.1:c.13_16del | XP_016859941.1:p.Thr5CysfsTer? | |
| NM_001193304.3:c.265_268del | NP_001180233.1:p.Thr89CysfsTer? | |
| NM_017849.4:c.265_268del MANE Select | NP_060319.1:p.Thr89CysfsTer? |