Linked Data
ClinVar Variation Id:
41187
ClinVar RCV Id:
RCV000034086
dbSNP Id:
rs267606558
PubMed:
PMID:22720333
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490090_67490094del , CM000673.2:g.67490090_67490094del | GRCh38 |
| NC_000011.9:g.67257561_67257565del , CM000673.1:g.67257561_67257565del | GRCh37 |
| NC_000011.8:g.67014137_67014141del | NCBI36 |
| NG_008969.1:g.12057_12061del , LRG_460:g.12057_12061del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525341.2:c.498_502del | ||
| ENST00000528641.7:c.332_336del | ENSP00000434982.3:p.Glu111GlyfsTer? | |
| ENST00000529797.2:n.1033_1037del | ||
| ENST00000682324.1:c.468+635_468+639del | ENSP00000508017.1:n.468+635_468+639del | |
| ENST00000682659.1:c.152_156del | ENSP00000507351.1:p.Glu51GlyfsTer? | |
| ENST00000682699.1:c.521_525del | ENSP00000507935.1:p.Glu174GlyfsTer? | |
| ENST00000683237.1:c.521_525del | ENSP00000507343.1:p.Glu174GlyfsTer? | |
| ENST00000683856.1:c.344_348del | ENSP00000507979.1:p.Glu115GlyfsTer? | |
| ENST00000684006.1:c.521_525del | ENSP00000507269.1:p.Glu174GlyfsTer? | |
| ENST00000684657.1:c.341_345del | ENSP00000507961.1:p.Glu114GlyfsTer? | |
| ENST00000279146.8:c.521_525del MANE Select | ENSP00000279146.3:p.Glu174GlyfsTer? | |
| ENST00000279146.7:c.521_525del | ENSP00000279146.3:p.Glu174GlyfsTer? | |
| ENST00000525341.1:c.173_177del | ENSP00000476993.1:p.Glu58GlyfsTer? | |
| ENST00000528641.6:c.332_336del | ENSP00000434982.2:p.Glu111GlyfsTer? | |
| NM_001302959.1:c.344_348del | NP_001289888.1:p.Glu115GlyfsTer? | |
| NM_001302960.1:c.521_525del | NP_001289889.1:p.Glu174GlyfsTer? | |
| NM_003977.3:c.521_525del | NP_003968.3:p.Glu174GlyfsTer? | |
| XM_024448761.1:c.521_525del | XP_024304529.1:p.Glu174GlyfsTer? | |
| NM_003977.4:c.521_525del MANE Select | NP_003968.3:p.Glu174GlyfsTer? | |
| NM_001302960.2:c.521_525del | NP_001289889.1:p.Glu174GlyfsTer? | |
| NM_001302959.2:c.344_348del | NP_001289888.1:p.Glu115GlyfsTer? |