Linked Data
dbSNP Id:
rs777379253
ExAC:
17:78092072 A / AG
gnomAD v2:
17-78092072-A-AG
gnomAD v4:
17-80118273-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80118277dup , CM000679.2:g.80118277dup | GRCh38 |
| NC_000017.10:g.78092076dup , CM000679.1:g.78092076dup | GRCh37 |
| NC_000017.9:g.75706671dup | NCBI36 |
| NG_009822.1:g.21722dup , LRG_673:g.21722dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.2566dup | ENSP00000460543.2:p.Glu856GlyfsTer28 | |
| ENST00000572080.2:c.*704dup | ENSP00000459972.2:n.*704dup | |
| ENST00000577106.6:c.2566dup | ENSP00000458306.2:p.Glu856GlyfsTer28 | |
| ENST00000302262.8:c.2566dup MANE Select | ENSP00000305692.3:p.Glu856GlyfsTer28 | |
| ENST00000302262.7:c.2566dup | ENSP00000305692.3:p.Glu856GlyfsTer28 | |
| ENST00000390015.7:c.2566dup | ENSP00000374665.3:p.Glu856GlyfsTer28 | |
| ENST00000573556.1:n.519dup | ||
| NM_000152.3:c.2566dup , LRG_673t1:c.2566dup | NP_000143.2:p.Glu856GlyfsTer28 | |
| NM_001079803.1:c.2566dup | NP_001073271.1:p.Glu856GlyfsTer28 | |
| NM_001079804.1:c.2566dup | NP_001073272.1:p.Glu856GlyfsTer28 | |
| XM_005257193.1:c.2566dup | XP_005257250.1:p.Glu856GlyfsTer28 | |
| XM_005257194.3:c.2566dup | XP_005257251.1:p.Glu856GlyfsTer28 | |
| NM_000152.4:c.2566dup | NP_000143.2:p.Glu856GlyfsTer28 | |
| NM_001079803.2:c.2566dup | NP_001073271.1:p.Glu856GlyfsTer28 | |
| NM_001079804.2:c.2566dup | NP_001073272.1:p.Glu856GlyfsTer28 | |
| XM_005257193.2:c.2566dup | XP_005257250.1:p.Glu856GlyfsTer28 | |
| XM_005257194.4:c.2566dup | XP_005257251.1:p.Glu856GlyfsTer28 | |
| NM_000152.5:c.2566dup MANE Select | NP_000143.2:p.Glu856GlyfsTer28 | |
| NM_001079803.3:c.2566dup | NP_001073271.1:p.Glu856GlyfsTer28 | |
| NM_001079804.3:c.2566dup | NP_001073272.1:p.Glu856GlyfsTer28 |