Linked Data
gnomAD v4:
8-37965878-AGGCACAGCAGCGCGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965880_37965894del , CM000670.2:g.37965880_37965894del | GRCh38 |
| NC_000008.10:g.37823398_37823412del , CM000670.1:g.37823398_37823412del | GRCh37 |
| NC_000008.9:g.37942555_37942569del | NCBI36 |
| NG_011936.1:g.5774_5788del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.577_591del MANE Select | ENSP00000343782.3:p.Pro193_Ala197del | |
| ENST00000520341.2:n.705_719del | ||
| ENST00000647937.1:c.61_75del | ENSP00000497740.1:p.Pro21_Ala25del | |
| ENST00000345060.4:c.577_591del | ENSP00000343782.3:p.Pro193_Ala197del | |
| ENST00000614635.1:c.577_591del | ENSP00000480325.1:p.Pro193_Ala197del | |
| NM_000025.2:c.577_591del | NP_000016.1:p.Pro193_Ala197del | |
| NM_000025.3:c.577_591del MANE Select | NP_000016.1:p.Pro193_Ala197del |