Linked Data
dbSNP Id:
rs1428780919
gnomAD v2:
9-130587910-G-GT
gnomAD v3:
9-127825631-G-GT
gnomAD v4:
9-127825631-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127825631_127825632insT , CM000671.2:g.127825631_127825632insT | GRCh38 |
| NC_000009.11:g.130587910_130587911insT , CM000671.1:g.130587910_130587911insT | GRCh37 |
| NC_000009.10:g.129627731_129627732insT | NCBI36 |
| NG_009551.1:g.34137_34138insA , LRG_589:g.34137_34138insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.143+63_143+64insA | ENSP00000479015.1:n.143+63_143+64insA | |
| ENST00000373203.9:c.689+63_689+64insA MANE Select | ENSP00000362299.4:n.689+63_689+64insA | |
| ENST00000344849.4:c.689+63_689+64insA | ENSP00000341917.3:n.689+63_689+64insA | |
| ENST00000373203.8:c.689+63_689+64insA | ENSP00000362299.4:n.689+63_689+64insA | |
| ENST00000480266.5:c.143+63_143+64insA | ENSP00000479015.1:n.143+63_143+64insA | |
| NM_000118.3:c.689+63_689+64insA , LRG_589t1:c.689+63_689+64insA | NP_000109.1:n.689+63_689+64insA | |
| NM_001114753.2:c.689+63_689+64insA , LRG_589t2:c.689+63_689+64insA | NP_001108225.1:n.689+63_689+64insA | |
| NM_001278138.1:c.143+63_143+64insA | NP_001265067.1:n.143+63_143+64insA | |
| XR_001746952.2:n.82+173_82+174insT | ||
| NM_001114753.3:c.689+63_689+64insA MANE Select | NP_001108225.1:n.689+63_689+64insA | |
| NM_001278138.2:c.143+63_143+64insA | NP_001265067.1:n.143+63_143+64insA |