Linked Data
dbSNP Id:
rs750199527
ExAC:
9:130582320 G / GT
gnomAD v2:
9-130582320-G-GT
gnomAD v4:
9-127820041-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127820041_127820042insT , CM000671.2:g.127820041_127820042insT | GRCh38 |
| NC_000009.11:g.130582320_130582321insT , CM000671.1:g.130582320_130582321insT | GRCh37 |
| NC_000009.10:g.129622141_129622142insT | NCBI36 |
| NG_009551.1:g.39727_39728insA , LRG_589:g.39727_39728insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.589-5_589-4insA | ENSP00000479015.1:n.589-5_589-4insA | |
| ENST00000373203.9:c.1135-5_1135-4insA MANE Select | ENSP00000362299.4:n.1135-5_1135-4insA | |
| ENST00000344849.4:c.1135-5_1135-4insA | ENSP00000341917.3:n.1135-5_1135-4insA | |
| ENST00000373203.8:c.1135-5_1135-4insA | ENSP00000362299.4:n.1135-5_1135-4insA | |
| ENST00000480266.5:c.589-5_589-4insA | ENSP00000479015.1:n.589-5_589-4insA | |
| ENST00000486329.1:n.103-5_103-4insA | ||
| NM_000118.3:c.1135-5_1135-4insA , LRG_589t1:c.1135-5_1135-4insA | NP_000109.1:n.1135-5_1135-4insA | |
| NM_001114753.2:c.1135-5_1135-4insA , LRG_589t2:c.1135-5_1135-4insA | NP_001108225.1:n.1135-5_1135-4insA | |
| NM_001278138.1:c.589-5_589-4insA | NP_001265067.1:n.589-5_589-4insA | |
| NR_136302.1:n.1569-1154_1569-1153insT | ||
| NM_001114753.3:c.1135-5_1135-4insA MANE Select | NP_001108225.1:n.1135-5_1135-4insA | |
| NM_001278138.2:c.589-5_589-4insA | NP_001265067.1:n.589-5_589-4insA |