Linked Data
ClinVar Variation Id:
212603
ClinVar RCV Id:
RCV000194814
dbSNP Id:
rs797046109
gnomAD v4:
19-36102958-AC-A
MyVariant Identifiers:
chr19:g.36593862del (hg19)
chr19:g.36593861del (hg19)
chr19:g.36102960del (hg38)
chr19:g.36102959del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36102960del , CM000681.2:g.36102960del | GRCh38 |
| NC_000019.9:g.36593862del , CM000681.1:g.36593862del | GRCh37 |
| NC_000019.8:g.41285702del | NCBI36 |
| NG_028101.1:g.53080del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270301.12:c.3333del | ENSP00000270301.6:p.Phe1112SerfsTer10 | |
| ENST00000401500.7:c.3348del MANE Select | ENSP00000384792.1:p.Phe1117SerfsTer10 | |
| ENST00000587391.6:c.*3208del | ENSP00000465525.1:n.*3208del | |
| ENST00000679357.1:c.1428del | ||
| ENST00000679598.1:c.113del | ||
| ENST00000679682.1:c.3333del | ENSP00000506226.1:p.Phe1112SerfsTer10 | |
| ENST00000679714.1:c.3342del | ENSP00000506627.1:p.Phe1115SerfsTer10 | |
| ENST00000679757.1:c.2997del | ENSP00000505158.1:p.Phe1000SerfsTer10 | |
| ENST00000679858.1:c.*2730del | ENSP00000505655.1:n.*2730del | |
| ENST00000680211.1:c.-52del | ENSP00000506102.1:n.-52del | |
| ENST00000680280.1:n.635del | ||
| ENST00000680349.1:n.1916del | ||
| ENST00000680403.1:c.3333del | ENSP00000505677.1:p.Phe1112SerfsTer10 | |
| ENST00000680564.1:c.3099del | ENSP00000505582.1:p.Phe1034SerfsTer10 | |
| ENST00000680590.1:c.*1728del | ENSP00000505350.1:n.*1728del | |
| ENST00000680597.1:c.113del | ||
| ENST00000680739.1:c.363del | ||
| ENST00000680773.1:n.1849del | ||
| ENST00000680806.1:c.*2651del | ENSP00000506418.1:n.*2651del | |
| ENST00000680997.1:n.1280del | ||
| ENST00000681608.1:n.977del | ||
| ENST00000681625.1:c.*680del | ENSP00000505555.1:n.*680del | |
| ENST00000681648.1:n.647del | ||
| ENST00000270301.11:c.3333del | ENSP00000270301.6:p.Phe1112SerfsTer10 | |
| ENST00000401500.6:c.3348del | ENSP00000384792.1:p.Phe1117SerfsTer10 | |
| ENST00000587391.5:c.*3208del | ENSP00000465525.1:n.*3208del | |
| NM_001083961.1:c.3348del | NP_001077430.1:p.Phe1117SerfsTer10 | |
| NM_173636.4:c.3333del | NP_775907.4:p.Phe1112SerfsTer10 | |
| XM_005258809.2:c.3237del | XP_005258866.1:p.Phe1080SerfsTer10 | |
| XM_011526837.1:c.3333del | XP_011525139.1:p.Phe1112SerfsTer10 | |
| XM_011526838.1:c.3099del | XP_011525140.1:p.Phe1034SerfsTer10 | |
| XM_011526839.1:c.2997del | XP_011525141.1:p.Phe1000SerfsTer10 | |
| XM_011526840.1:c.2340del | XP_011525142.1:p.Phe781SerfsTer10 | |
| XM_011526841.1:c.1926del | XP_011525143.1:p.Phe643SerfsTer10 | |
| XM_011526842.1:c.1779del | XP_011525144.1:p.Phe594SerfsTer10 | |
| XM_011526843.1:c.1095del | XP_011525145.1:p.Phe366SerfsTer10 | |
| XM_011526844.1:c.1095del | XP_011525146.1:p.Phe366SerfsTer10 | |
| XM_011526840.2:c.2340del | XP_011525142.1:p.Phe781SerfsTer10 | |
| XM_011526841.2:c.1926del | XP_011525143.1:p.Phe643SerfsTer10 | |
| XM_011526844.2:c.1095del | XP_011525146.1:p.Phe366SerfsTer10 | |
| XM_017026665.1:c.3348del | XP_016882154.1:p.Phe1117SerfsTer10 | |
| NM_001083961.2:c.3348del MANE Select | NP_001077430.1:p.Phe1117SerfsTer10 | |
| NM_173636.5:c.3333del | NP_775907.4:p.Phe1112SerfsTer10 |