Linked Data
dbSNP Id:
rs1200478459
gnomAD v2:
10-56790892-TA-T
gnomAD v3:
10-55031132-TA-T
gnomAD v4:
10-55031132-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.55031135del , CM000672.2:g.55031135del | GRCh38 |
| NC_000010.10:g.56790895del , CM000672.1:g.56790895del | GRCh37 |
| NC_000010.9:g.56460901del | NCBI36 |
| NG_009191.3:g.603050del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000458638.1:c.-79-133633del | ENSP00000394465.1:n.-79-133633del | |
| ENST00000613346.4:c.-79-133633del | ENSP00000481211.1:n.-79-133633del | |
| NM_001354404.1:c.-79-133633del | NP_001341333.1:n.-79-133633del | |
| XM_017016573.2:c.-156-82532del | XP_016872062.1:n.-156-82532del | |
| NM_001354404.2:c.-79-133633del | NP_001341333.1:n.-79-133633del |