Linked Data
dbSNP Id:
rs1795691130
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155461190_155461199del , CM000669.2:g.155461190_155461199del | GRCh38 |
| NC_000007.13:g.155253885_155253894del , CM000669.1:g.155253885_155253894del | GRCh37 |
| NC_000007.12:g.154946646_154946655del | NCBI36 |
| NG_007124.1:g.9471_9480del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297375.4:c.686-1181_686-1172del MANE Select | ENSP00000297375.4:n.686-1181_686-1172del | |
| NM_001427.3:c.686-1181_686-1172del | NP_001418.2:n.686-1181_686-1172del | |
| NM_001427.4:c.686-1181_686-1172del MANE Select | NP_001418.2:n.686-1181_686-1172del |