Linked Data
ClinVar Variation Id:
179296
ClinVar RCV Id:
RCV000156085
dbSNP Id:
rs727504771
gnomAD v2:
19-3586543-GGGGGGTCAGATAGGCCT-G
gnomAD v4:
19-3586545-GGGGGGTCAGATAGGCCT-G
MyVariant Identifiers:
chr19:g.3586546_3586562del (hg19)
chr19:g.3586544_3586560del (hg19)
chr19:g.3586548_3586564del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3586548_3586564del , CM000681.2:g.3586548_3586564del | GRCh38 |
| NC_000019.9:g.3586546_3586562del , CM000681.1:g.3586546_3586562del | GRCh37 |
| NC_000019.8:g.3537546_3537562del | NCBI36 |
| NG_031943.1:g.5978_5994del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644452.3:c.279_295del MANE Select | ENSP00000493901.2:p.Gln95LeufsTer17 | |
| ENST00000644946.1:c.279_295del | ENSP00000495068.1:p.Gln95LeufsTer17 | |
| ENST00000322315.5:c.279_295del | ENSP00000319254.5:p.Gln95LeufsTer17 | |
| NM_133261.2:c.279_295del | NP_573568.1:p.Gln95LeufsTer17 | |
| XM_005259492.2:c.279_295del | XP_005259549.1:p.Gln95LeufsTer17 | |
| XM_005259492.3:c.279_295del | XP_005259549.1:p.Gln95LeufsTer17 | |
| NM_133261.3:c.279_295del MANE Select | NP_573568.1:p.Gln95LeufsTer17 |