Linked Data
dbSNP Id:
rs751243038
ExAC:
2:84652498 GC / G
gnomAD v2:
2-84652498-GC-G
gnomAD v4:
2-84425374-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84425376del , CM000664.2:g.84425376del | GRCh38 |
| NC_000002.11:g.84652500del , CM000664.1:g.84652500del | GRCh37 |
| NC_000002.10:g.84506011del | NCBI36 |
| NG_016755.1:g.39088del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393868.7:c.1014+40del MANE Select | ENSP00000377446.2:n.1014+40del | |
| ENST00000651342.1:c.*454+40del | ENSP00000498471.1:n.*454+40del | |
| ENST00000393868.6:c.1014+40del | ENSP00000377446.2:n.1014+40del | |
| ENST00000484365.1:n.1522+40del | ||
| ENST00000491123.5:n.860+40del | ||
| NM_003849.3:c.1014+40del | NP_003840.2:n.1014+40del | |
| NM_003849.4:c.1014+40del MANE Select | NP_003840.2:n.1014+40del |