Linked Data
ClinVar Variation Id:
203628
ClinVar RCV Id:
RCV001852415
dbSNP Id:
rs796051932
gnomAD v2:
7-65551736-C-CCGTGGCACTGACCCGAGACTCTGAG
gnomAD v4:
7-66086749-C-CCGTGGCACTGACCCGAGACTCTGAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66086752_66086776dup , CM000669.2:g.66086752_66086776dup | GRCh38 |
| NC_000007.13:g.65551739_65551763dup , CM000669.1:g.65551739_65551763dup | GRCh37 |
| NC_000007.12:g.65189174_65189198dup | NCBI36 |
| NG_009288.1:g.15964_15988dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304874.14:c.533_557dup MANE Select | ENSP00000307188.9:p.Leu187GlyfsTer7 | |
| ENST00000362000.10:c.338_362dup | ENSP00000354710.6:p.Leu122GlyfsTer7 | |
| ENST00000380839.9:c.524+90_524+114dup | ENSP00000370219.4:n.524+90_524+114dup | |
| ENST00000395331.4:c.533_557dup | ENSP00000378740.3:p.Leu187GlyfsTer7 | |
| ENST00000395332.8:c.533_557dup | ENSP00000378741.3:p.Leu187GlyfsTer7 | |
| ENST00000671817.1:c.524+90_524+114dup | ENSP00000500462.1:n.524+90_524+114dup | |
| ENST00000672498.1:c.447-977_447-953dup | ENSP00000500227.1:n.447-977_447-953dup | |
| ENST00000672586.1:n.438_462dup | ||
| ENST00000672676.1:n.703_727dup | ||
| ENST00000673149.1:n.345_369dup | ||
| ENST00000673350.1:n.781_805dup | ||
| ENST00000673518.1:c.524+90_524+114dup | ENSP00000499889.1:n.524+90_524+114dup | |
| ENST00000673594.1:n.382_406dup | ||
| ENST00000304874.13:c.533_557dup | ENSP00000307188.9:p.Leu187GlyfsTer7 | |
| ENST00000362000.9:c.338_362dup | ENSP00000354710.5:p.Leu122GlyfsTer7 | |
| ENST00000380839.8:c.524+90_524+114dup | ENSP00000370219.4:n.524+90_524+114dup | |
| ENST00000395331.3:c.533_557dup | ENSP00000378740.3:p.Leu187GlyfsTer7 | |
| ENST00000395332.7:c.533_557dup | ENSP00000378741.3:p.Leu187GlyfsTer7 | |
| ENST00000487982.5:n.599_623dup | ||
| NM_000048.3:c.533_557dup | NP_000039.2:p.Leu187GlyfsTer7 | |
| NM_001024943.1:c.533_557dup | NP_001020114.1:p.Leu187GlyfsTer7 | |
| NM_001024944.1:c.533_557dup | NP_001020115.1:p.Leu187GlyfsTer7 | |
| NM_001024946.1:c.524+90_524+114dup | NP_001020117.1:n.524+90_524+114dup | |
| NM_000048.4:c.533_557dup MANE Select | NP_000039.2:p.Leu187GlyfsTer7 | |
| NM_001024943.2:c.533_557dup | NP_001020114.1:p.Leu187GlyfsTer7 | |
| NM_001024944.2:c.533_557dup | NP_001020115.1:p.Leu187GlyfsTer7 | |
| NM_001024946.2:c.524+90_524+114dup | NP_001020117.1:n.524+90_524+114dup |