Linked Data
ClinVar Variation Id:
2924844
ClinVar RCV Id:
RCV003788546
dbSNP Id:
rs771484889
gnomAD v4:
7-19117036-C-CGCTGCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117042_19117047dup , CM000669.2:g.19117042_19117047dup | GRCh38 |
| NC_000007.13:g.19156665_19156670dup , CM000669.1:g.19156665_19156670dup | GRCh37 |
| NC_000007.12:g.19123190_19123195dup | NCBI36 |
| NG_008114.1:g.5631_5636dup | |
| NG_008114.2:g.5631_5636dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.280_285dup MANE Select | ENSP00000242261.5:p.Ser95_Gly96insSerSer | |
| ENST00000242261.5:c.280_285dup | ENSP00000242261.5:p.Ser95_Gly96insSerSer | |
| ENST00000354571.5:c.77_82dup | ||
| NM_000474.3:c.280_285dup | NP_000465.1:p.Ser95_Gly96insSerSer | |
| XM_011515496.1:c.280_285dup | XP_011513798.1:p.Ser95_Gly96insSerSer | |
| NR_149001.1:n.631_636dup | ||
| NM_000474.4:c.280_285dup MANE Select | NP_000465.1:p.Ser95_Gly96insSerSer | |
| NR_149001.2:n.595_600dup |