Linked Data
ClinVar Variation Id:
817985
dbSNP Id:
rs1599851667
gnomAD v3:
19-36104594-T-TC
gnomAD v4:
19-36104594-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36104598dup , CM000681.2:g.36104598dup | GRCh38 |
| NC_000019.9:g.36595500dup , CM000681.1:g.36595500dup | GRCh37 |
| NC_000019.8:g.41287340dup | NCBI36 |
| NG_028101.1:g.54718dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.4219dup | ENSP00000270301.6:p.Leu1407ProfsTer2 | |
| ENST00000401500.7:c.4234dup MANE Select | ENSP00000384792.1:p.Leu1412ProfsTer2 | |
| ENST00000587391.6:c.*4094dup | ENSP00000465525.1:n.*4094dup | |
| ENST00000679357.1:c.2314dup | ||
| ENST00000679598.1:c.979dup | ||
| ENST00000679682.1:c.4219dup | ENSP00000506226.1:p.Leu1407ProfsTer2 | |
| ENST00000679714.1:c.4228dup | ENSP00000506627.1:p.Leu1410ProfsTer2 | |
| ENST00000679757.1:c.3883dup | ENSP00000505158.1:p.Leu1295ProfsTer2 | |
| ENST00000679858.1:c.*3616dup | ENSP00000505655.1:n.*3616dup | |
| ENST00000680211.1:c.835dup | ENSP00000506102.1:p.Leu279ProfsTer2 | |
| ENST00000680280.1:n.1737dup | ||
| ENST00000680349.1:n.2883dup | ||
| ENST00000680403.1:c.4219dup | ENSP00000505677.1:p.Leu1407ProfsTer2 | |
| ENST00000680564.1:c.3985dup | ENSP00000505582.1:p.Leu1329ProfsTer2 | |
| ENST00000680590.1:c.*2614dup | ENSP00000505350.1:n.*2614dup | |
| ENST00000680597.1:c.967dup | ||
| ENST00000680739.1:c.1249dup | ||
| ENST00000680773.1:n.2735dup | ||
| ENST00000680806.1:c.*3537dup | ENSP00000506418.1:n.*3537dup | |
| ENST00000680997.1:n.2166dup | ||
| ENST00000681608.1:n.2079dup | ||
| ENST00000681625.1:c.*1566dup | ENSP00000505555.1:n.*1566dup | |
| ENST00000681648.1:n.2285dup | ||
| ENST00000270301.11:c.4219dup | ENSP00000270301.6:p.Leu1407ProfsTer2 | |
| ENST00000401500.6:c.4234dup | ENSP00000384792.1:p.Leu1412ProfsTer2 | |
| ENST00000587391.5:c.*4094dup | ENSP00000465525.1:n.*4094dup | |
| NM_001083961.1:c.4234dup | NP_001077430.1:p.Leu1412ProfsTer2 | |
| NM_173636.4:c.4219dup | NP_775907.4:p.Leu1407ProfsTer2 | |
| XM_005258809.2:c.4123dup | XP_005258866.1:p.Leu1375ProfsTer2 | |
| XM_011526837.1:c.4219dup | XP_011525139.1:p.Leu1407ProfsTer2 | |
| XM_011526838.1:c.3985dup | XP_011525140.1:p.Leu1329ProfsTer2 | |
| XM_011526839.1:c.3883dup | XP_011525141.1:p.Leu1295ProfsTer2 | |
| XM_011526840.1:c.3226dup | XP_011525142.1:p.Leu1076ProfsTer2 | |
| XM_011526841.1:c.2812dup | XP_011525143.1:p.Leu938ProfsTer2 | |
| XM_011526842.1:c.2665dup | XP_011525144.1:p.Leu889ProfsTer2 | |
| XM_011526843.1:c.1981dup | XP_011525145.1:p.Leu661ProfsTer2 | |
| XM_011526844.1:c.1981dup | XP_011525146.1:p.Leu661ProfsTer2 | |
| XM_011526840.2:c.3226dup | XP_011525142.1:p.Leu1076ProfsTer2 | |
| XM_011526841.2:c.2812dup | XP_011525143.1:p.Leu938ProfsTer2 | |
| XM_011526844.2:c.1981dup | XP_011525146.1:p.Leu661ProfsTer2 | |
| XM_017026665.1:c.4234dup | XP_016882154.1:p.Leu1412ProfsTer2 | |
| NM_001083961.2:c.4234dup MANE Select | NP_001077430.1:p.Leu1412ProfsTer2 | |
| NM_173636.5:c.4219dup | NP_775907.4:p.Leu1407ProfsTer2 |