Linked Data
dbSNP Id:
rs1568497328
gnomAD v2:
19-51363370-TG-T
gnomAD v4:
19-50860114-TG-T
MyVariant Identifiers:
chr19:g.51363371del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50860116del , CM000681.2:g.50860116del | GRCh38 |
| NC_000019.9:g.51363372del , CM000681.1:g.51363372del | GRCh37 |
| NC_000019.8:g.56055184del | NCBI36 |
| NG_011653.1:g.10202del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326003.7:c.775del MANE Select | ENSP00000314151.1:p.Ala259ProfsTer20 | |
| ENST00000326003.6:c.775del | ENSP00000314151.1:p.Ala259ProfsTer20 | |
| ENST00000360617.7:c.1217del | ENSP00000353829.2:n.1217del | |
| ENST00000422986.6:c.*431del | ENSP00000393628.2:n.*431del | |
| ENST00000595392.5:c.*276del | ENSP00000468912.1:n.*276del | |
| ENST00000595952.5:c.646del | ENSP00000471155.1:p.Ala216ProfsTer20 | |
| ENST00000596333.1:n.953del | ||
| ENST00000598145.1:c.777del | ||
| ENST00000601349.5:n.2054del | ||
| ENST00000601812.1:n.1207del | ||
| ENST00000617027.4:c.652del | ENSP00000483513.1:p.Ala218ProfsTer20 | |
| NM_001030047.1:c.*500del | NP_001025218.1:n.*500del | |
| NM_001030048.1:c.646del | NP_001025219.1:p.Ala216ProfsTer20 | |
| NM_001648.2:c.775del MANE Select | NP_001639.1:p.Ala259ProfsTer20 | |
| XM_011526923.1:c.793del | XP_011525225.1:p.Ala265ProfsTer20 | |
| XR_935817.1:n.1324+862del |