Linked Data
ClinVar Variation Id:
558389
dbSNP Id:
rs1555766993
gnomAD v4:
19-41422230-AG-A
MyVariant Identifiers:
chr19:g.41422235del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422235del , CM000681.2:g.41422235del | GRCh38 |
| NC_000019.9:g.41928140del , CM000681.1:g.41928140del | GRCh37 |
| NC_000019.8:g.46619980del | NCBI36 |
| NG_013004.1:g.29447del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.718del MANE Select | ENSP00000269980.2:p.Ala240GlnfsTer? | |
| ENST00000269980.6:c.718del | ENSP00000269980.2:p.Ala240GlnfsTer? | |
| ENST00000457836.6:c.652del | ENSP00000416000.2:p.Ala218GlnfsTer? | |
| ENST00000535632.5:n.347del | ||
| ENST00000540732.3:c.820del | ENSP00000443246.1:p.Ala274GlnfsTer? | |
| ENST00000541315.1:c.618del | ||
| ENST00000542943.5:c.631del | ENSP00000440345.1:p.Ala211GlnfsTer? | |
| ENST00000545787.1:n.346del | ||
| ENST00000595085.5:c.718del | ENSP00000471150.2:p.Ala240GlnfsTer? | |
| NM_000709.3:c.718del | NP_000700.1:p.Ala240GlnfsTer? | |
| NM_001164783.1:c.718del | NP_001158255.1:p.Ala240GlnfsTer? | |
| NM_000709.4:c.718del MANE Select | NP_000700.1:p.Ala240GlnfsTer? | |
| NM_001164783.2:c.718del | NP_001158255.1:p.Ala240GlnfsTer? |