Linked Data
ClinVar Variation Id:
374858
ClinVar RCV Id:
RCV000415565
dbSNP Id:
rs1057519274
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73325001_73325013dup , CM000677.2:g.73325001_73325013dup | GRCh38 |
| NC_000015.9:g.73617342_73617354dup , CM000677.1:g.73617342_73617354dup | GRCh37 |
| NC_000015.8:g.71404395_71404407dup | NCBI36 |
| NG_009063.1:g.49252_49264dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261917.4:c.1920_1932dup MANE Select | ENSP00000261917.3:p.Lys645GlnfsTer? | |
| ENST00000261917.3:c.1920_1932dup | ENSP00000261917.3:p.Lys645GlnfsTer? | |
| NM_005477.2:c.1920_1932dup | NP_005468.1:p.Lys645GlnfsTer? | |
| XM_011521148.1:c.702_714dup | XP_011519450.1:p.Lys239GlnfsTer? | |
| XM_011521148.2:c.702_714dup | XP_011519450.1:p.Lys239GlnfsTer? | |
| NM_005477.3:c.1920_1932dup MANE Select | NP_005468.1:p.Lys645GlnfsTer? |