Linked Data
ClinVar Variation Id:
375312
dbSNP Id:
rs1057519341
gnomAD v4:
19-1496380-CG-C
MyVariant Identifiers:
chr19:g.1496383del (hg19)
chr19:g.1496380del (hg19)
chr19:g.1496384del (hg38)
chr19:g.1496381del (hg38)
PubMed:
PMID:27889058
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1496384del , CM000681.2:g.1496384del | GRCh38 |
| NC_000019.9:g.1496383del , CM000681.1:g.1496383del | GRCh37 |
| NC_000019.8:g.1447383del | NCBI36 |
| NG_055254.1:g.10380del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233596.8:c.448del MANE Select | ENSP00000233596.2:p.Ala150ProfsTer2 | |
| ENST00000395479.10:c.448del MANE Plus Clinical | ENSP00000378861.5:p.Ala150ProfsTer2 | |
| ENST00000233596.7:c.448del | ENSP00000233596.2:p.Ala150ProfsTer2 | |
| ENST00000395479.8:c.264del | ||
| ENST00000395484.4:c.232del | ENSP00000378865.4:p.Ala78ProfsTer2 | |
| NM_138393.1:c.448del | NP_612402.1:p.Ala150ProfsTer2 | |
| NM_001329556.2:c.448del | NP_001316485.1:p.Ala150ProfsTer2 | |
| NM_138393.3:c.448del | NP_612402.1:p.Ala150ProfsTer2 | |
| NM_138393.4:c.448del MANE Select | NP_612402.1:p.Ala150ProfsTer2 | |
| NM_001329556.3:c.448del MANE Plus Clinical | NP_001316485.1:p.Ala150ProfsTer2 |