Linked Data
ClinVar Variation Id:
100931
ClinVar RCV Id:
RCV000087284
dbSNP Id:
rs483352850
COSMIC:
COSM424628
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173911938_173911939del , CM000663.2:g.173911938_173911939del | GRCh38 |
| NC_000001.10:g.173881076_173881077del , CM000663.1:g.173881076_173881077del | GRCh37 |
| NC_000001.9:g.172147699_172147700del | NCBI36 |
| NG_012462.1:g.10442_10443del , LRG_577:g.10442_10443del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367698.4:c.486_487del MANE Select | ENSP00000356671.3:p.Tyr163SerfsTer25 | |
| ENST00000367698.3:c.486_487del | ENSP00000356671.3:p.Tyr163SerfsTer25 | |
| ENST00000487183.1:n.191_192del | ||
| ENST00000617423.4:c.486_487del | ENSP00000478688.1:p.Tyr163SerfsTer25 | |
| NM_000488.3:c.486_487del , LRG_577t1:c.486_487del | NP_000479.1:p.Tyr163SerfsTer25 | |
| XM_005245198.2:c.342_343del | XP_005245255.1:p.Tyr115SerfsTer25 | |
| NM_001365052.1:c.342_343del | NP_001351981.1:p.Tyr115SerfsTer25 | |
| NM_000488.4:c.486_487del MANE Select | NP_000479.1:p.Tyr163SerfsTer25 | |
| NM_001365052.2:c.342_343del | NP_001351981.1:p.Tyr115SerfsTer25 | |
| NM_001386302.1:c.486_487del | NP_001373231.1:p.Tyr163SerfsTer25 | |
| NM_001386303.1:c.567_568del | NP_001373232.1:p.Tyr190SerfsTer25 | |
| NM_001386304.1:c.486_487del | NP_001373233.1:p.Tyr163SerfsTer25 | |
| NM_001386305.1:c.486_487del | NP_001373234.1:p.Tyr163SerfsTer25 | |
| NM_001386306.1:c.409-1046_409-1045del | NP_001373235.1:n.409-1046_409-1045del |