Linked Data
ClinVar Variation Id:
496675
ClinVar RCV Id:
RCV000590941
dbSNP Id:
rs1556857481
gnomAD v4:
X-47574544-T-TG
PubMed:
PMID:25741878
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47574549dup , CM000685.2:g.47574549dup | GRCh38 |
| NC_000023.10:g.47433948dup , CM000685.1:g.47433948dup | GRCh37 |
| NC_000023.9:g.47318892dup | NCBI36 |
| NG_008437.1:g.50313dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.1439dup MANE Select | ENSP00000295987.7:p.Leu481IlefsTer? | |
| ENST00000340666.5:c.1439dup | ENSP00000343206.4:p.Leu481IlefsTer? | |
| ENST00000640721.1:c.70+143dup | ENSP00000492857.1:n.70+143dup | |
| ENST00000295987.11:c.1439dup | ENSP00000295987.7:p.Leu481IlefsTer? | |
| ENST00000340666.4:c.1439dup | ENSP00000343206.4:p.Leu481IlefsTer? | |
| NM_006950.3:c.1439dup MANE Select | NP_008881.2:p.Leu481IlefsTer? | |
| NM_133499.2:c.1439dup | NP_598006.1:p.Leu481IlefsTer? |