Linked Data
ClinVar Variation Id:
729703
ClinVar RCV Id:
RCV000904388
dbSNP Id:
rs1799761
ExAC:
19:49207023 AC / A
gnomAD v2:
19-49207023-AC-A
gnomAD v3:
19-48703766-AC-A
gnomAD v4:
19-48703766-AC-A
MyVariant Identifiers:
chr19:g.49207024del (hg19)
chr19:g.48703768del (hg38)
chr19:g.48703767del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48703768del , CM000681.2:g.48703768del | GRCh38 |
| NC_000019.9:g.49207025del , CM000681.1:g.49207025del | GRCh37 |
| NC_000019.8:g.53898837del | NCBI36 |
| NG_007511.1:g.12798del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425340.3:c.812del MANE Select | ENSP00000387498.2:p.Pro271LeufsTer16 | |
| ENST00000522966.2:c.812del | ENSP00000430227.2:p.Pro271LeufsTer16 | |
| ENST00000391876.5:c.812del | ENSP00000375748.4:p.Pro271LeufsTer16 | |
| ENST00000425340.2:c.812del | ENSP00000387498.2:p.Pro271LeufsTer16 | |
| NM_000511.5:c.812del | NP_000502.4:p.Pro271LeufsTer16 | |
| NM_001097638.2:c.812del | NP_001091107.1:p.Pro271LeufsTer16 | |
| NR_131188.1:n.82del | ||
| NM_000511.6:c.812del MANE Select | NP_000502.4:p.Pro271LeufsTer16 | |
| NM_001097638.3:c.812del | NP_001091107.1:p.Pro271LeufsTer16 |