Linked Data
dbSNP Id:
rs782593678
ExAC:
X:154182360 ATGT / A
gnomAD v2:
X-154182360-ATGT-A
gnomAD v4:
X-154954085-ATGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154954089_154954091del , CM000685.2:g.154954089_154954091del | GRCh38 |
| NC_000023.10:g.154182364_154182366del , CM000685.1:g.154182364_154182366del | GRCh37 |
| NC_000023.9:g.153835558_153835560del | NCBI36 |
| NG_011403.1:g.73636_73638del | |
| NG_011403.2:g.73636_73638del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1753-46_1753-44del MANE Select | ENSP00000353393.4:n.1753-46_1753-44del | |
| ENST00000647125.1:c.*1629-46_*1629-44del | ENSP00000496062.1:n.*1629-46_*1629-44del | |
| ENST00000360256.8:c.1753-46_1753-44del | ENSP00000353393.4:n.1753-46_1753-44del | |
| NM_000132.3:c.1753-46_1753-44del | NP_000123.1:n.1753-46_1753-44del | |
| XM_011531126.1:c.1648-46_1648-44del | XP_011529428.1:n.1648-46_1648-44del | |
| NM_000132.4:c.1753-46_1753-44del MANE Select | NP_000123.1:n.1753-46_1753-44del |