Linked Data
ClinVar Variation Id:
188951
dbSNP Id:
rs397515378
ExAC:
8:63978527 CA / C
gnomAD v2:
8-63978527-CA-C
gnomAD v3:
8-63065968-CA-C
gnomAD v4:
8-63065968-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63065970del , CM000670.2:g.63065970del | GRCh38 |
| NC_000008.10:g.63978529del , CM000670.1:g.63978529del | GRCh37 |
| NC_000008.9:g.64141083del | NCBI36 |
| NG_016123.1:g.25085del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260116.5:c.487del MANE Select | ENSP00000260116.4:p.Trp163GlyfsTer13 | |
| ENST00000260116.4:c.487del | ENSP00000260116.4:p.Trp163GlyfsTer13 | |
| ENST00000521138.1:n.233-17366del | ||
| NM_000370.3:c.487del MANE Select | NP_000361.1:p.Trp163GlyfsTer13 | |
| XM_006716468.2:c.205-1653del | XP_006716531.1:n.205-1653del | |
| XM_006716468.4:c.205-1653del | XP_006716531.1:n.205-1653del |