Linked Data
ClinVar Variation Id:
2025244
ClinVar RCV Id:
RCV002853009
dbSNP Id:
rs1745647423
gnomAD v4:
5-55233196-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233197dup , CM000667.2:g.55233197dup | GRCh38 |
| NC_000005.9:g.54529025dup , CM000667.1:g.54529025dup | GRCh37 |
| NC_000005.8:g.54564782dup | NCBI36 |
| NG_034201.1:g.5521dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.327dup MANE Select | ENSP00000282572.4:p.Lys110GlnfsTer26 | |
| ENST00000282572.4:c.327dup | ENSP00000282572.4:p.Lys110GlnfsTer26 | |
| ENST00000501463.2:c.327dup | ENSP00000422485.1:p.Lys110GlnfsTer? | |
| NM_021147.4:c.327dup | NP_066970.3:p.Lys110GlnfsTer26 | |
| NR_125346.1:n.521dup | ||
| NR_125347.1:n.521dup | ||
| NM_021147.5:c.327dup MANE Select | NP_066970.3:p.Lys110GlnfsTer26 | |
| NR_125346.2:n.412dup | ||
| NR_125347.2:n.412dup |