Linked Data
ClinVar Variation Id:
1456865
ClinVar RCV Id:
RCV001953475
dbSNP Id:
rs1201516783
gnomAD v3:
17-42536490-CGCGCGTGCGGGTGCGCGGCTCCACGG-C
gnomAD v4:
17-42536490-CGCGCGTGCGGGTGCGCGGCTCCACGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536494_42536519del , CM000679.2:g.42536494_42536519del | GRCh38 |
| NC_000017.10:g.40688512_40688537del , CM000679.1:g.40688512_40688537del | GRCh37 |
| NC_000017.9:g.37942038_37942063del | NCBI36 |
| NG_011552.1:g.5562_5587del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.222_247del MANE Select | ENSP00000225927.1:p.Val75GlyfsTer? | |
| ENST00000225927.6:c.222_247del | ENSP00000225927.1:p.Val75GlyfsTer? | |
| NM_000263.3:c.222_247del | NP_000254.2:p.Val75GlyfsTer? | |
| XM_024450771.1:c.222_247del | XP_024306539.1:p.Val75GlyfsTer? | |
| NM_000263.4:c.222_247del MANE Select | NP_000254.2:p.Val75GlyfsTer? |