Linked Data
dbSNP Id:
rs386386749
ExAC:
17:78081527 G / GCAGCGGA
MyVariant Identifiers:
chr17:g.78081527_78081528insCAGCGGA (hg19)
chr17:g.80107728_80107729insCAGCGGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80107729_80107730insAGCGGAC , CM000679.2:g.80107729_80107730insAGCGGAC | GRCh38 |
| NC_000017.10:g.78081528_78081529insAGCGGAC , CM000679.1:g.78081528_78081529insAGCGGAC | GRCh37 |
| NC_000017.9:g.75696123_75696124insAGCGGAC | NCBI36 |
| NG_009822.1:g.11174_11175insAGCGGAC , LRG_673:g.11174_11175insAGCGGAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.858+7_858+8insAGCGGAC | ENSP00000460543.2:n.858+7_858+8insAGCGGAC | |
| ENST00000572080.2:c.858+7_858+8insAGCGGAC | ENSP00000459972.2:n.858+7_858+8insAGCGGAC | |
| ENST00000577106.6:c.858+7_858+8insAGCGGAC | ENSP00000458306.2:n.858+7_858+8insAGCGGAC | |
| ENST00000302262.8:c.858+7_858+8insAGCGGAC MANE Select | ENSP00000305692.3:n.858+7_858+8insAGCGGAC | |
| ENST00000302262.7:c.858+7_858+8insAGCGGAC | ENSP00000305692.3:n.858+7_858+8insAGCGGAC | |
| ENST00000390015.7:c.858+7_858+8insAGCGGAC | ENSP00000374665.3:n.858+7_858+8insAGCGGAC | |
| NM_000152.3:c.858+7_858+8insAGCGGAC , LRG_673t1:c.858+7_858+8insAGCGGAC | NP_000143.2:n.858+7_858+8insAGCGGAC | |
| NM_001079803.1:c.858+7_858+8insAGCGGAC | NP_001073271.1:n.858+7_858+8insAGCGGAC | |
| NM_001079804.1:c.858+7_858+8insAGCGGAC | NP_001073272.1:n.858+7_858+8insAGCGGAC | |
| XM_005257193.1:c.858+7_858+8insAGCGGAC | XP_005257250.1:n.858+7_858+8insAGCGGAC | |
| XM_005257194.3:c.858+7_858+8insAGCGGAC | XP_005257251.1:n.858+7_858+8insAGCGGAC | |
| NM_000152.4:c.858+7_858+8insAGCGGAC | NP_000143.2:n.858+7_858+8insAGCGGAC | |
| NM_001079803.2:c.858+7_858+8insAGCGGAC | NP_001073271.1:n.858+7_858+8insAGCGGAC | |
| NM_001079804.2:c.858+7_858+8insAGCGGAC | NP_001073272.1:n.858+7_858+8insAGCGGAC | |
| XM_005257193.2:c.858+7_858+8insAGCGGAC | XP_005257250.1:n.858+7_858+8insAGCGGAC | |
| XM_005257194.4:c.858+7_858+8insAGCGGAC | XP_005257251.1:n.858+7_858+8insAGCGGAC | |
| NM_000152.5:c.858+7_858+8insAGCGGAC MANE Select | NP_000143.2:n.858+7_858+8insAGCGGAC | |
| NM_001079803.3:c.858+7_858+8insAGCGGAC | NP_001073271.1:n.858+7_858+8insAGCGGAC | |
| NM_001079804.3:c.858+7_858+8insAGCGGAC | NP_001073272.1:n.858+7_858+8insAGCGGAC |