Linked Data
gnomAD v4:
7-19117160-TCCGCCGGGCCCCGCG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117167_19117181del , CM000669.2:g.19117167_19117181del | GRCh38 |
| NC_000007.13:g.19156790_19156804del , CM000669.1:g.19156790_19156804del | GRCh37 |
| NC_000007.12:g.19123315_19123329del | NCBI36 |
| NG_008114.1:g.5498_5512del | |
| NG_008114.2:g.5498_5512del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.147_161del MANE Select | ENSP00000242261.5:p.Ala50_Gly54del | |
| ENST00000242261.5:c.147_161del | ENSP00000242261.5:p.Ala50_Gly54del | |
| NM_000474.3:c.147_161del | NP_000465.1:p.Ala50_Gly54del | |
| XM_011515496.1:c.147_161del | XP_011513798.1:p.Ala50_Gly54del | |
| NR_149001.1:n.498_512del | ||
| NM_000474.4:c.147_161del MANE Select | NP_000465.1:p.Ala50_Gly54del | |
| NR_149001.2:n.462_476del |