Linked Data
ClinVar Variation Id:
550158
ClinVar RCV Id:
RCV000664827
dbSNP Id:
rs765040780
gnomAD v2:
10-50732552-CACTGGGGCTGGAGGCGTG-C
gnomAD v4:
10-49524506-CACTGGGGCTGGAGGCGTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49524520_49524537del , CM000672.2:g.49524520_49524537del | GRCh38 |
| NC_000010.10:g.50732566_50732583del , CM000672.1:g.50732566_50732583del | GRCh37 |
| NC_000010.9:g.50402572_50402589del | NCBI36 |
| NG_009442.1:g.19578_19595del , LRG_465:g.19578_19595del | |
| NG_033155.1:g.4758_4775del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.906_923del MANE Select | ENSP00000348089.5:p.Thr303_Val308del | |
| ENST00000447839.7:c.906_923del MANE Plus Clinical | ENSP00000387966.2:p.Thr303_Val308del | |
| ENST00000679596.1:c.*535_*552del | ENSP00000504862.1:n.*535_*552del | |
| ENST00000679811.1:n.989_1006del | ||
| ENST00000680107.1:c.652+3893_652+3910del | ENSP00000505909.1:n.652+3893_652+3910del | |
| ENST00000680233.1:n.999_1016del | ||
| ENST00000681632.1:n.984_1001del | ||
| ENST00000681659.1:c.906_923del | ENSP00000505631.1:p.Thr303_Val308del | |
| ENST00000355832.9:c.906_923del | ENSP00000348089.5:p.Thr303_Val308del | |
| ENST00000447839.6:c.906_923del | ENSP00000387966.2:p.Thr303_Val308del | |
| ENST00000515869.1:c.906_923del | ENSP00000423550.1:p.Thr303_Val308del | |
| NM_000124.3:c.906_923del | NP_000115.1:p.Thr303_Val308del | |
| NM_001277058.1:c.906_923del | NP_001263987.1:p.Thr303_Val308del | |
| NM_001277059.1:c.906_923del | NP_001263988.1:p.Thr303_Val308del | |
| NM_001346440.1:c.906_923del | NP_001333369.1:p.Thr303_Val308del | |
| NM_000124.4:c.906_923del MANE Select | NP_000115.1:p.Thr303_Val308del | |
| NM_001277058.2:c.906_923del MANE Plus Clinical | NP_001263987.1:p.Thr303_Val308del | |
| NM_001277059.2:c.906_923del | NP_001263988.1:p.Thr303_Val308del | |
| NM_001346440.2:c.906_923del | NP_001333369.1:p.Thr303_Val308del |