Linked Data
ClinVar Variation Id:
618153
dbSNP Id:
rs1377412693
gnomAD v2:
16-227017-AG-A
gnomAD v3:
16-177018-AG-A
gnomAD v4:
16-177018-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177020del , CM000678.2:g.177020del | GRCh38 |
| NC_000016.9:g.227019del , CM000678.1:g.227019del | GRCh37 |
| NC_000016.8:g.167019del | NCBI36 |
| NG_000006.1:g.37883del | |
| NG_059186.1:g.5370del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.187del MANE Select | ENSP00000322421.5:p.Val63TrpfsTer5 | |
| ENST00000397797.1:c.91del | ENSP00000380899.1:p.Val31TrpfsTer5 | |
| ENST00000472694.1:n.323del | ||
| ENST00000487791.1:n.156del | ||
| NM_000558.4:c.187del | NP_000549.1:p.Val63TrpfsTer5 | |
| NM_000558.5:c.187del MANE Select | NP_000549.1:p.Val63TrpfsTer5 |