Linked Data
dbSNP Id:
rs1207216304
gnomAD v2:
17-78087629-C-CT
gnomAD v3:
17-80113830-C-CT
gnomAD v4:
17-80113830-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80113830_80113831insT , CM000679.2:g.80113830_80113831insT | GRCh38 |
| NC_000017.10:g.78087629_78087630insT , CM000679.1:g.78087629_78087630insT | GRCh37 |
| NC_000017.9:g.75702224_75702225insT | NCBI36 |
| NG_009822.1:g.17275_17276insT , LRG_673:g.17275_17276insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.2189+464_2189+465insT | ENSP00000460543.2:n.2189+464_2189+465insT | |
| ENST00000572080.2:c.*327+464_*327+465insT | ENSP00000459972.2:n.*327+464_*327+465insT | |
| ENST00000577106.6:c.2189+464_2189+465insT | ENSP00000458306.2:n.2189+464_2189+465insT | |
| ENST00000302262.8:c.2189+464_2189+465insT MANE Select | ENSP00000305692.3:n.2189+464_2189+465insT | |
| ENST00000302262.7:c.2189+464_2189+465insT | ENSP00000305692.3:n.2189+464_2189+465insT | |
| ENST00000390015.7:c.2189+464_2189+465insT | ENSP00000374665.3:n.2189+464_2189+465insT | |
| ENST00000572080.1:c.608+464_608+465insT | ||
| NM_000152.3:c.2189+464_2189+465insT , LRG_673t1:c.2189+464_2189+465insT | NP_000143.2:n.2189+464_2189+465insT | |
| NM_001079803.1:c.2189+464_2189+465insT | NP_001073271.1:n.2189+464_2189+465insT | |
| NM_001079804.1:c.2189+464_2189+465insT | NP_001073272.1:n.2189+464_2189+465insT | |
| XM_005257193.1:c.2189+464_2189+465insT | XP_005257250.1:n.2189+464_2189+465insT | |
| XM_005257194.3:c.2189+464_2189+465insT | XP_005257251.1:n.2189+464_2189+465insT | |
| NM_000152.4:c.2189+464_2189+465insT | NP_000143.2:n.2189+464_2189+465insT | |
| NM_001079803.2:c.2189+464_2189+465insT | NP_001073271.1:n.2189+464_2189+465insT | |
| NM_001079804.2:c.2189+464_2189+465insT | NP_001073272.1:n.2189+464_2189+465insT | |
| XM_005257193.2:c.2189+464_2189+465insT | XP_005257250.1:n.2189+464_2189+465insT | |
| XM_005257194.4:c.2189+464_2189+465insT | XP_005257251.1:n.2189+464_2189+465insT | |
| NM_000152.5:c.2189+464_2189+465insT MANE Select | NP_000143.2:n.2189+464_2189+465insT | |
| NM_001079803.3:c.2189+464_2189+465insT | NP_001073271.1:n.2189+464_2189+465insT | |
| NM_001079804.3:c.2189+464_2189+465insT | NP_001073272.1:n.2189+464_2189+465insT |