Linked Data
ClinVar Variation Id:
933998
ClinVar RCV Id:
RCV001202324
dbSNP Id:
rs797045302
gnomAD v3:
X-25013529-A-AGGCCGCGGC
gnomAD v4:
X-25013529-A-AGGCCGCGGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013539_25013547dup , CM000685.2:g.25013539_25013547dup | GRCh38 |
| NC_000023.10:g.25031656_25031664dup , CM000685.1:g.25031656_25031664dup | GRCh37 |
| NC_000023.9:g.24941577_24941585dup | NCBI36 |
| NG_008281.1:g.7411_7419dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.457_465dup MANE Select | ENSP00000368332.4:p.Ala155_Trp156insAlaAlaAla | |
| ENST00000379044.4:c.457_465dup | ENSP00000368332.4:p.Ala155_Trp156insAlaAlaAla | |
| NM_139058.2:c.457_465dup | NP_620689.1:p.Ala155_Trp156insAlaAlaAla | |
| NM_139058.3:c.457_465dup MANE Select | NP_620689.1:p.Ala155_Trp156insAlaAlaAla |