Linked Data
ClinVar Variation Id:
421569
ClinVar RCV Id:
RCV000479207
dbSNP Id:
rs1064795215
gnomAD v4:
1-214622237-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.214622239del , CM000663.2:g.214622239del | GRCh38 |
| NC_000001.10:g.214795582del , CM000663.1:g.214795582del | GRCh37 |
| NC_000001.9:g.212862205del | NCBI36 |
| NG_046787.1:g.24061del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706764.1:n.1204del | ||
| ENST00000706765.1:c.1026del | ENSP00000516538.1:p.Glu342AspfsTer2 | |
| ENST00000366955.8:c.1026del MANE Select | ENSP00000355922.3:p.Glu342AspfsTer2 | |
| ENST00000366955.7:c.1026del | ENSP00000355922.3:p.Glu342AspfsTer2 | |
| NM_016343.3:c.1026del | NP_057427.3:p.Glu342AspfsTer2 | |
| XM_011509082.1:c.1026del | XP_011507384.1:p.Glu342AspfsTer2 | |
| XM_011509082.3:c.1026del | XP_011507384.1:p.Glu342AspfsTer2 | |
| XM_017000086.2:c.1026del | XP_016855575.1:p.Glu342AspfsTer2 | |
| NM_016343.4:c.1026del MANE Select | NP_057427.3:p.Glu342AspfsTer2 |