Linked Data
ClinVar Variation Id:
1075713
ClinVar RCV Id:
RCV001389386
dbSNP Id:
rs1910419866
gnomAD v4:
16-81354505-GC-G
MyVariant Identifiers:
chr16:g.81388111del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81354506del , CM000678.2:g.81354506del | GRCh38 |
| NC_000016.9:g.81388111del , CM000678.1:g.81388111del | GRCh37 |
| NC_000016.8:g.79945612del | NCBI36 |
| NG_009007.1:g.44541del , LRG_242:g.44541del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*92del | ENSP00000498114.1:n.*92del | |
| ENST00000648994.2:c.384del MANE Select | ENSP00000497351.1:p.Cys128Ter | |
| ENST00000650388.1:c.168-2279del | ENSP00000498081.1:n.168-2279del | |
| ENST00000674788.1:n.509del | ||
| ENST00000568107.2:c.384del | ENSP00000476795.1:p.Cys128Ter | |
| NM_022041.3:c.384del , LRG_242t1:c.384del | NP_071324.1:p.Cys128Ter | |
| XM_017023734.1:c.-256del | XP_016879223.1:n.-256del | |
| NM_001377486.1:c.-256del | NP_001364415.1:n.-256del | |
| NM_022041.4:c.384del MANE Select | NP_071324.1:p.Cys128Ter |