Linked Data
dbSNP Id:
rs1568522518
gnomAD v2:
19-40743925-G-GA
gnomAD v4:
19-40238018-G-GA
MyVariant Identifiers:
chr19:g.40743925_40743926insA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40238019dup , CM000681.2:g.40238019dup | GRCh38 |
| NC_000019.9:g.40743926dup , CM000681.1:g.40743926dup | GRCh37 |
| NC_000019.8:g.45435766dup | NCBI36 |
| NG_012038.2:g.52340dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392038.7:c.781dup MANE Select | ENSP00000375892.2:p.Ser261PhefsTer4 | |
| ENST00000578615.6:c.660dup | ||
| ENST00000311278.10:c.781dup | ENSP00000309428.6:p.Ser261PhefsTer4 | |
| ENST00000391844.8:c.*395dup | ENSP00000375719.4:n.*395dup | |
| ENST00000391845.6:n.246dup | ||
| ENST00000392038.6:c.781dup | ENSP00000375892.2:p.Ser261PhefsTer4 | |
| ENST00000424901.5:c.781dup | ENSP00000399532.2:p.Ser261PhefsTer4 | |
| ENST00000476266.5:n.1109dup | ||
| ENST00000480878.6:n.208dup | ||
| ENST00000483166.5:n.669dup | ||
| ENST00000496089.6:n.48dup | ||
| ENST00000578282.5:n.174dup | ||
| ENST00000578310.1:c.75-1634dup | ||
| ENST00000578615.5:c.349dup | ENSP00000463262.1:p.Ser117PhefsTer4 | |
| ENST00000579047.5:c.595dup | ENSP00000471369.1:p.Ser199PhefsTer4 | |
| ENST00000579345.5:n.301dup | ||
| ENST00000580878.1:n.438dup | ||
| ENST00000584288.5:c.*395dup | ENSP00000462469.1:n.*395dup | |
| ENST00000601166.5:c.525dup | ENSP00000472371.1:n.525dup | |
| NM_001243027.2:c.595dup | NP_001229956.1:p.Ser199PhefsTer4 | |
| NM_001243028.2:c.595dup | NP_001229957.1:p.Ser199PhefsTer4 | |
| NM_001626.5:c.781dup | NP_001617.1:p.Ser261PhefsTer4 | |
| XM_011526614.1:c.781dup | XP_011524916.1:p.Ser261PhefsTer4 | |
| XM_011526615.1:c.781dup | XP_011524917.1:p.Ser261PhefsTer4 | |
| XM_011526616.1:c.781dup | XP_011524918.1:p.Ser261PhefsTer4 | |
| XM_011526617.1:c.781dup | XP_011524919.1:p.Ser261PhefsTer4 | |
| XM_011526618.1:c.781dup | XP_011524920.1:p.Ser261PhefsTer4 | |
| XM_011526619.1:c.781dup | XP_011524921.1:p.Ser261PhefsTer4 | |
| XM_011526620.1:c.781dup | XP_011524922.1:p.Ser261PhefsTer4 | |
| XM_011526621.1:c.781dup | XP_011524923.1:p.Ser261PhefsTer4 | |
| XM_011526622.1:c.781dup | XP_011524924.1:p.Ser261PhefsTer4 | |
| NM_001330511.1:c.781dup | NP_001317440.1:p.Ser261PhefsTer4 | |
| XM_011526622.2:c.781dup | XP_011524924.1:p.Ser261PhefsTer4 | |
| XM_017026470.2:c.781dup | XP_016881959.1:p.Ser261PhefsTer4 | |
| XM_024451416.1:c.781dup | XP_024307184.1:p.Ser261PhefsTer4 | |
| XM_024451417.1:c.781dup | XP_024307185.1:p.Ser261PhefsTer4 | |
| NM_001626.6:c.781dup MANE Select | NP_001617.1:p.Ser261PhefsTer4 | |
| NM_001243027.3:c.595dup | NP_001229956.1:p.Ser199PhefsTer4 | |
| NM_001243028.3:c.595dup | NP_001229957.1:p.Ser199PhefsTer4 |