Linked Data
ClinVar Variation Id:
177660
dbSNP Id:
rs727504265
gnomAD v3:
11-47335165-ATG-A
gnomAD v4:
11-47335165-ATG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47335170_47335171del , CM000673.2:g.47335170_47335171del | GRCh38 |
| NC_000011.9:g.47356721_47356722del , CM000673.1:g.47356721_47356722del | GRCh37 |
| NC_000011.8:g.47313297_47313298del | NCBI36 |
| NG_007667.1:g.22536_22537del , LRG_386:g.22536_22537del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.2780_2781del MANE Select | ENSP00000442795.1:p.Thr927IlefsTer? | |
| ENST00000256993.8:c.2780_2781del | ENSP00000256993.5:p.Thr927IlefsTer? | |
| ENST00000399249.6:c.2780_2781del | ENSP00000382193.2:p.Thr927IlefsTer? | |
| ENST00000545968.5:c.2780_2781del | ENSP00000442795.1:p.Thr927IlefsTer? | |
| NM_000256.3:c.2780_2781del , LRG_386t1:c.2780_2781del MANE Select | NP_000247.2:p.Thr927IlefsTer? | |
| XM_011520117.1:c.2762_2763del | XP_011518419.1:p.Thr921IlefsTer? | |
| XM_011520118.1:c.2699_2700del | XP_011518420.1:p.Thr900IlefsTer? |