Linked Data
ClinVar Variation Id:
3072800
ClinVar RCV Id:
RCV004013822
gnomAD v4:
1-55063463-C-CGTGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55063466_55063469dup , CM000663.2:g.55063466_55063469dup | GRCh38 |
| NC_000001.10:g.55529139_55529142dup , CM000663.1:g.55529139_55529142dup | GRCh37 |
| NC_000001.9:g.55301727_55301730dup | NCBI36 |
| NG_009061.1:g.28920_28923dup , LRG_275:g.28920_28923dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*301_*304dup | ENSP00000501161.2:n.*301_*304dup | |
| ENST00000710286.1:c.2318_2321dup | ENSP00000518176.1:p.Val775CysfsTer? | |
| ENST00000673903.1:c.1586_1589dup | ENSP00000501257.1:p.Val531CysfsTer? | |
| ENST00000673913.1:c.811_814dup | ENSP00000501161.1:n.811_814dup | |
| ENST00000302118.5:c.1961_1964dup MANE Select | ENSP00000303208.5:p.Val656CysfsTer? | |
| ENST00000490692.1:n.2507_2510dup | ||
| NM_174936.3:c.1961_1964dup , LRG_275t1:c.1961_1964dup | NP_777596.2:p.Val656CysfsTer? | |
| NR_110451.1:n.1568_1571dup | ||
| XM_011541193.1:c.1082_1085dup | XP_011539495.1:p.Val363CysfsTer? | |
| NM_174936.4:c.1961_1964dup MANE Select | NP_777596.2:p.Val656CysfsTer? | |
| NR_110451.2:n.1568_1571dup |