Linked Data
dbSNP Id:
rs765040780
gnomAD v2:
10-50732552-C-CACTGGGGCTGGAGGCGTG
gnomAD v4:
10-49524506-C-CACTGGGGCTGGAGGCGTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49524520_49524537dup , CM000672.2:g.49524520_49524537dup | GRCh38 |
| NC_000010.10:g.50732566_50732583dup , CM000672.1:g.50732566_50732583dup | GRCh37 |
| NC_000010.9:g.50402572_50402589dup | NCBI36 |
| NG_009442.1:g.19578_19595dup , LRG_465:g.19578_19595dup | |
| NG_033155.1:g.4758_4775dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.906_923dup MANE Select | ENSP00000348089.5:p.Val308_Gln309insThrProProAlaProVal | |
| ENST00000447839.7:c.906_923dup MANE Plus Clinical | ENSP00000387966.2:p.Val308_Gln309insThrProProAlaProVal | |
| ENST00000679596.1:c.*535_*552dup | ENSP00000504862.1:n.*535_*552dup | |
| ENST00000679811.1:n.989_1006dup | ||
| ENST00000680107.1:c.652+3893_652+3910dup | ENSP00000505909.1:n.652+3893_652+3910dup | |
| ENST00000680233.1:n.999_1016dup | ||
| ENST00000681632.1:n.984_1001dup | ||
| ENST00000681659.1:c.906_923dup | ENSP00000505631.1:p.Val308_Gln309insThrProProAlaProVal | |
| ENST00000355832.9:c.906_923dup | ENSP00000348089.5:p.Val308_Gln309insThrProProAlaProVal | |
| ENST00000447839.6:c.906_923dup | ENSP00000387966.2:p.Val308_Gln309insThrProProAlaProVal | |
| ENST00000515869.1:c.906_923dup | ENSP00000423550.1:p.Val308_Gln309insThrProProAlaProVal | |
| NM_000124.3:c.906_923dup | NP_000115.1:p.Val308_Gln309insThrProProAlaProVal | |
| NM_001277058.1:c.906_923dup | NP_001263987.1:p.Val308_Gln309insThrProProAlaProVal | |
| NM_001277059.1:c.906_923dup | NP_001263988.1:p.Val308_Gln309insThrProProAlaProVal | |
| NM_001346440.1:c.906_923dup | NP_001333369.1:p.Val308_Gln309insThrProProAlaProVal | |
| NM_000124.4:c.906_923dup MANE Select | NP_000115.1:p.Val308_Gln309insThrProProAlaProVal | |
| NM_001277058.2:c.906_923dup MANE Plus Clinical | NP_001263987.1:p.Val308_Gln309insThrProProAlaProVal | |
| NM_001277059.2:c.906_923dup | NP_001263988.1:p.Val308_Gln309insThrProProAlaProVal | |
| NM_001346440.2:c.906_923dup | NP_001333369.1:p.Val308_Gln309insThrProProAlaProVal |