MyVariant.info:
GRCh38
chr19:g.36091251del
GRCh38
chr19:g.36091248del
GRCh37
chr19:g.36582153del
GRCh37
chr19:g.36582150del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001298 (NFE)
Exomes Max Group AF
0.00001295 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36091251del , CM000681.2:g.36091251del | GRCh38 |
| NC_000019.9:g.36582153del , CM000681.1:g.36582153del | GRCh37 |
| NC_000019.8:g.41273993del | NCBI36 |
| NG_028101.1:g.41371del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.2086del | ENSP00000270301.6:p.Ser696AlafsTer4 | |
| ENST00000401500.7:c.2086del MANE Select | ENSP00000384792.1:p.Ser696AlafsTer4 | |
| ENST00000587391.6:c.*776del | ENSP00000465525.1:n.*776del | |
| ENST00000679489.1:c.404del | ||
| ENST00000679682.1:c.2071del | ENSP00000506226.1:p.Ser691AlafsTer4 | |
| ENST00000679714.1:c.2080del | ENSP00000506627.1:p.Ser694AlafsTer4 | |
| ENST00000679757.1:c.1735del | ENSP00000505158.1:p.Ser579AlafsTer4 | |
| ENST00000679858.1:c.*883del | ENSP00000505655.1:n.*883del | |
| ENST00000680349.1:n.69del | ||
| ENST00000680377.1:c.484+731del | ||
| ENST00000680403.1:c.2086del | ENSP00000505677.1:p.Ser696AlafsTer4 | |
| ENST00000680489.1:n.2409del | ||
| ENST00000680564.1:c.2086del | ENSP00000505582.1:p.Ser696AlafsTer4 | |
| ENST00000680590.1:c.*485del | ENSP00000505350.1:n.*485del | |
| ENST00000680806.1:c.*915del | ENSP00000506418.1:n.*915del | |
| ENST00000680858.1:c.409-1438del | ||
| ENST00000681302.1:c.536del | ||
| ENST00000681625.1:c.2071del | ENSP00000505555.1:p.Ser691AlafsTer4 | |
| ENST00000270301.11:c.2086del | ENSP00000270301.6:p.Ser696AlafsTer4 | |
| ENST00000401500.6:c.2086del | ENSP00000384792.1:p.Ser696AlafsTer4 | |
| ENST00000587391.5:c.*776del | ENSP00000465525.1:n.*776del | |
| NM_001083961.1:c.2086del | NP_001077430.1:p.Ser696AlafsTer4 | |
| NM_173636.4:c.2086del | NP_775907.4:p.Ser696AlafsTer4 | |
| XM_005258809.2:c.2086del | XP_005258866.1:p.Ser696AlafsTer4 | |
| XM_011526837.1:c.2071del | XP_011525139.1:p.Ser691AlafsTer4 | |
| XM_011526838.1:c.2086del | XP_011525140.1:p.Ser696AlafsTer4 | |
| XM_011526839.1:c.1735del | XP_011525141.1:p.Ser579AlafsTer4 | |
| XM_011526840.1:c.1078del | XP_011525142.1:p.Ser360AlafsTer4 | |
| XM_011526841.1:c.664del | XP_011525143.1:p.Ser222AlafsTer4 | |
| XM_011526842.1:c.517del | XP_011525144.1:p.Ser173AlafsTer4 | |
| XM_011526843.1:c.-44+731del | XP_011525145.1:n.-44+731del | |
| XM_011526844.1:c.-104del | XP_011525146.1:n.-104del | |
| XM_011526840.2:c.1078del | XP_011525142.1:p.Ser360AlafsTer4 | |
| XM_011526841.2:c.664del | XP_011525143.1:p.Ser222AlafsTer4 | |
| XM_011526844.2:c.-104del | XP_011525146.1:n.-104del | |
| XM_017026665.1:c.2086del | XP_016882154.1:p.Ser696AlafsTer4 | |
| XR_001753671.1:n.2177del | ||
| XR_001753672.1:n.2125+731del | ||
| NM_001083961.2:c.2086del MANE Select | NP_001077430.1:p.Ser696AlafsTer4 | |
| NM_173636.5:c.2086del | NP_775907.4:p.Ser696AlafsTer4 |