Linked Data
dbSNP Id:
rs757861807
ExAC:
10:96701820 GGGA / G
gnomAD v2:
10-96701820-GGGA-G
gnomAD v3:
10-94942063-GGGA-G
gnomAD v4:
10-94942063-GGGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942067_94942069del , CM000672.2:g.94942067_94942069del | GRCh38 |
| NC_000010.10:g.96701824_96701826del , CM000672.1:g.96701824_96701826del | GRCh37 |
| NC_000010.9:g.96691814_96691816del | NCBI36 |
| NG_008385.1:g.8410_8412del | |
| NG_008385.2:g.8910_8912del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.331+47_331+49del MANE Select | ENSP00000260682.6:n.331+47_331+49del | |
| ENST00000643112.1:c.331+47_331+49del | ENSP00000496202.1:n.331+47_331+49del | |
| ENST00000645207.1:n.484+47_484+49del | ||
| ENST00000260682.6:c.331+47_331+49del | ENSP00000260682.6:n.331+47_331+49del | |
| ENST00000461906.1:n.356+47_356+49del | ||
| ENST00000473496.1:n.102+47_102+49del | ||
| NM_000771.3:c.331+47_331+49del | NP_000762.2:n.331+47_331+49del | |
| NM_000771.4:c.331+47_331+49del MANE Select | NP_000762.2:n.331+47_331+49del |