Linked Data
dbSNP Id:
rs1846041630
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136673656_136673657del , CM000671.2:g.136673656_136673657del | GRCh38 |
| NC_000009.11:g.139568108_139568109del , CM000671.1:g.139568108_139568109del | GRCh37 |
| NC_000009.10:g.138687929_138687930del | NCBI36 |
| NG_008090.1:g.18805_18806del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.*97_*98del MANE Select | ENSP00000360761.2:n.*97_*98del | |
| ENST00000371694.7:c.*97_*98del | ENSP00000360759.3:n.*97_*98del | |
| ENST00000371696.6:c.*97_*98del | ENSP00000360761.2:n.*97_*98del | |
| ENST00000538402.1:c.*97_*98del | ENSP00000438919.1:n.*97_*98del | |
| NM_001012727.1:c.*97_*98del | NP_001012745.1:n.*97_*98del | |
| NM_006412.3:c.*97_*98del | NP_006403.2:n.*97_*98del | |
| NM_006412.4:c.*97_*98del MANE Select | NP_006403.2:n.*97_*98del | |
| NM_001012727.2:c.*97_*98del | NP_001012745.1:n.*97_*98del |