Linked Data
gnomAD v4:
1-94062516-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94062517_94062518del , CM000663.2:g.94062517_94062518del | GRCh38 |
| NC_000001.10:g.94528073_94528074del , CM000663.1:g.94528073_94528074del | GRCh37 |
| NC_000001.9:g.94300661_94300662del | NCBI36 |
| NG_009073.1:g.63632_63633del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.1937+59_1937+60del MANE Select | ENSP00000359245.3:n.1937+59_1937+60del | |
| ENST00000649773.1:c.1937+59_1937+60del | ENSP00000496882.1:n.1937+59_1937+60del | |
| ENST00000370225.3:c.1937+59_1937+60del | ENSP00000359245.3:n.1937+59_1937+60del | |
| ENST00000536513.5:c.-65+656_-65+657del | ENSP00000439707.2:n.-65+656_-65+657del | |
| NM_000350.2:c.1937+59_1937+60del | NP_000341.2:n.1937+59_1937+60del | |
| NM_000350.3:c.1937+59_1937+60del MANE Select | NP_000341.2:n.1937+59_1937+60del |