Linked Data
dbSNP Id:
rs1661590267
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.182586094_182586095del , CM000663.2:g.182586094_182586095del | GRCh38 |
| NC_000001.10:g.182555229_182555230del , CM000663.1:g.182555229_182555230del | GRCh37 |
| NC_000001.9:g.180821852_180821853del | NCBI36 |
| NG_009024.2:g.5881_5882del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367559.7:c.714_715del MANE Select | ENSP00000356530.3:p.Gly239GlufsTer28 | |
| ENST00000539397.1:c.714_715del | ENSP00000440844.1:p.Gly239GlufsTer28 | |
| NM_021133.3:c.714_715del | NP_066956.1:p.Gly239GlufsTer28 | |
| XM_005245411.2:c.714_715del | XP_005245468.1:p.Gly239GlufsTer28 | |
| XR_001737359.1:n.997_998del | ||
| XR_001737360.1:n.997_998del | ||
| NM_021133.4:c.714_715del MANE Select | NP_066956.1:p.Gly239GlufsTer28 |