Linked Data
ClinVar Variation Id:
190754
ClinVar RCV Id:
RCV000170906
dbSNP Id:
rs786205795
gnomAD v4:
1-115768337-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768342del , CM000663.2:g.115768342del | GRCh38 |
| NC_000001.10:g.116310963del , CM000663.1:g.116310963del | GRCh37 |
| NC_000001.9:g.116112486del | NCBI36 |
| NG_008802.1:g.5468del , LRG_404:g.5468del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000488931.2:c.-73del | ENSP00000518226.1:n.-73del | |
| ENST00000261448.6:c.204del MANE Select | ENSP00000261448.5:p.Lys68AsnfsTer5 | |
| ENST00000261448.5:c.204del | ENSP00000261448.5:p.Lys68AsnfsTer5 | |
| NM_001232.3:c.204del , LRG_404t1:c.204del | NP_001223.2:p.Lys68AsnfsTer5 | |
| NM_001232.4:c.204del MANE Select | NP_001223.2:p.Lys68AsnfsTer5 |