Linked Data
dbSNP Id:
rs1287806388
gnomAD v2:
7-146489629-CA-C
gnomAD v3:
7-146792537-CA-C
gnomAD v4:
7-146792537-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.146792538del , CM000669.2:g.146792538del | GRCh38 |
| NC_000007.13:g.146489630del , CM000669.1:g.146489630del | GRCh37 |
| NC_000007.12:g.146120563del | NCBI36 |
| NG_007092.2:g.681178del | |
| NG_007092.3:g.681538del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361727.8:c.208+18157del MANE Select | ENSP00000354778.3:n.208+18157del | |
| ENST00000636561.1:n.111+18157del | ||
| ENST00000637150.1:n.137+18157del | ||
| ENST00000637694.1:n.111+18157del | ||
| ENST00000638117.1:n.111+18157del | ||
| ENST00000361727.7:c.208+18157del | ENSP00000354778.3:n.208+18157del | |
| ENST00000625365.2:c.208+18157del | ENSP00000485955.1:n.208+18157del | |
| NM_014141.5:c.208+18157del | NP_054860.1:n.208+18157del | |
| XM_017011950.2:c.208+18157del | XP_016867439.1:n.208+18157del | |
| NM_014141.6:c.208+18157del MANE Select | NP_054860.1:n.208+18157del |