Linked Data
ClinVar Variation Id:
510609
ClinVar RCV Id:
RCV000600778
dbSNP Id:
rs1555706470
gnomAD v4:
19-10777226-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10777231del , CM000681.2:g.10777231del | GRCh38 |
| NC_000019.9:g.10887907del , CM000681.1:g.10887907del | GRCh37 |
| NC_000019.8:g.10748907del | NCBI36 |
| NG_008792.1:g.64153del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682285.1:n.876+15del | ||
| ENST00000682524.1:n.876+15del | ||
| ENST00000683738.1:n.876+15del | ||
| ENST00000355667.11:c.688+15del | ENSP00000347890.6:n.688+15del | |
| ENST00000389253.9:c.688+15del MANE Select | ENSP00000373905.4:n.688+15del | |
| ENST00000355667.10:c.688+15del | ENSP00000347890.6:n.688+15del | |
| ENST00000359692.10:c.688+15del | ENSP00000352721.6:n.688+15del | |
| ENST00000389253.8:c.688+15del | ENSP00000373905.3:n.688+15del | |
| ENST00000408974.8:c.688+15del | ENSP00000386192.3:n.688+15del | |
| ENST00000585892.5:c.688+15del | ENSP00000468734.1:n.688+15del | |
| ENST00000591701.5:n.48+15del | ||
| NM_001005360.2:c.688+15del | NP_001005360.1:n.688+15del | |
| NM_001005361.2:c.688+15del | NP_001005361.1:n.688+15del | |
| NM_001005362.2:c.688+15del | NP_001005362.1:n.688+15del | |
| NM_001190716.1:c.688+15del | NP_001177645.1:n.688+15del | |
| NM_004945.3:c.688+15del | NP_004936.2:n.688+15del | |
| NM_001005361.3:c.688+15del MANE Select | NP_001005361.1:n.688+15del | |
| NM_001190716.2:c.688+15del | NP_001177645.1:n.688+15del | |
| NM_001005360.3:c.688+15del | NP_001005360.1:n.688+15del | |
| NM_001005362.3:c.688+15del | NP_001005362.1:n.688+15del | |
| NM_004945.4:c.688+15del | NP_004936.2:n.688+15del |