Linked Data
ClinVar Variation Id:
2120057
ClinVar RCV Id:
RCV003059190
dbSNP Id:
rs1963666828
gnomAD v4:
16-23417003-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23417004dup , CM000678.2:g.23417004dup | GRCh38 |
| NC_000016.9:g.23428325dup , CM000678.1:g.23428325dup | GRCh37 |
| NC_000016.8:g.23335826dup | NCBI36 |
| NG_021287.1:g.41188dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307149.10:c.1255dup MANE Select | ENSP00000305442.5:p.Cys419LeufsTer17 | |
| ENST00000307149.9:c.1255dup | ENSP00000305442.5:p.Cys419LeufsTer17 | |
| ENST00000567821.1:n.290dup | ||
| NM_153603.3:c.1255dup | NP_705831.1:p.Cys419LeufsTer17 | |
| XR_429680.1:n.1471dup | ||
| XM_017023870.1:c.1060dup | XP_016879359.1:p.Cys354LeufsTer17 | |
| XR_002957852.1:n.1476dup | ||
| XR_429680.2:n.1476dup | ||
| NM_153603.4:c.1255dup MANE Select | NP_705831.1:p.Cys419LeufsTer17 |