Linked Data
dbSNP Id:
rs1170549976
gnomAD v2:
7-37927848-ATAGCTTTTAAACCT-A
gnomAD v4:
7-37888246-ATAGCTTTTAAACCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37888247_37888260del , CM000669.2:g.37888247_37888260del | GRCh38 |
| NC_000007.13:g.37927849_37927862del , CM000669.1:g.37927849_37927862del | GRCh37 |
| NC_000007.12:g.37894374_37894387del | NCBI36 |
| NG_015893.1:g.44651_44664del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199447.9:c.1248-30_1248-17del (NME8) MANE Select | ENSP00000199447.4:n.1248-30_1248-17del | |
| ENST00000199447.8:c.1248-30_1248-17del (NME8) | ENSP00000199447.4:n.1248-30_1248-17del | |
| ENST00000426106.1:c.*194-30_*194-17del (NME8) | ENSP00000408841.1:n.*194-30_*194-17del | |
| ENST00000440017.5:c.1248-30_1248-17del (NME8) | ENSP00000397063.1:n.1248-30_1248-17del | |
| ENST00000476620.1:c.-38+30902_-38+30915del (EPDR1) | ENSP00000425858.1:n.-38+30902_-38+30915del | |
| NM_016616.4:c.1248-30_1248-17del (NME8) | NP_057700.3:n.1248-30_1248-17del | |
| NM_016616.5:c.1248-30_1248-17del (NME8) MANE Select | NP_057700.3:n.1248-30_1248-17del |