Linked Data
ClinVar Variation Id:
1438822
ClinVar RCV Id:
RCV001934372
dbSNP Id:
rs1973192389
gnomAD v3:
19-35849259-AG-A
gnomAD v4:
19-35849259-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35849262del , CM000681.2:g.35849262del | GRCh38 |
| NC_000019.9:g.36340164del , CM000681.1:g.36340164del | GRCh37 |
| NC_000019.8:g.41032004del | NCBI36 |
| NG_013356.2:g.25028del , LRG_693:g.25028del | |
| NG_051206.1:g.2628del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.816del MANE Select | ENSP00000368190.4:p.Leu273Ter | |
| ENST00000353632.6:c.816del | ENSP00000343634.5:p.Leu273Ter | |
| ENST00000378910.9:c.816del | ENSP00000368190.4:p.Leu273Ter | |
| NM_004646.3:c.816del , LRG_693t1:c.816del | NP_004637.1:p.Leu273Ter | |
| NM_004646.4:c.816del MANE Select | NP_004637.1:p.Leu273Ter |