Linked Data
dbSNP Id:
rs779466202
ExAC:
10:96540452 TAC / T
gnomAD v2:
10-96540452-TAC-T
gnomAD v4:
10-94780695-TAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780697_94780698del , CM000672.2:g.94780697_94780698del | GRCh38 |
| NC_000010.10:g.96540454_96540455del , CM000672.1:g.96540454_96540455del | GRCh37 |
| NC_000010.9:g.96530444_96530445del | NCBI36 |
| NG_008384.2:g.22992_22993del | |
| NG_008384.3:g.23017_23018del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.642+38_642+39del MANE Select | ENSP00000360372.3:n.642+38_642+39del | |
| ENST00000645461.1:n.1695+38_1695+39del | ||
| ENST00000371321.7:c.642+38_642+39del | ENSP00000360372.3:n.642+38_642+39del | |
| ENST00000464755.1:c.1405+38_1405+39del | ENSP00000483243.1:n.1405+38_1405+39del | |
| NM_000769.2:c.642+38_642+39del | NP_000760.1:n.642+38_642+39del | |
| NM_000769.4:c.642+38_642+39del MANE Select | NP_000760.1:n.642+38_642+39del |