Linked Data
gnomAD v4:
11-22625048-GGGCGCGACAAAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625052_22625063del , CM000673.2:g.22625052_22625063del | GRCh38 |
| NC_000011.9:g.22646598_22646609del , CM000673.1:g.22646598_22646609del | GRCh37 |
| NC_000011.8:g.22603174_22603185del | NCBI36 |
| NG_007425.1:g.5782_5793del , LRG_527:g.5782_5793del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.751_762del MANE Select | ENSP00000330875.3:p.Phe251_Ala254del | |
| ENST00000327470.4:c.751_762del | ENSP00000330875.3:p.Phe251_Ala254del | |
| NM_022725.3:c.751_762del , LRG_527t1:c.751_762del | NP_073562.1:p.Phe251_Ala254del | |
| NM_022725.4:c.751_762del MANE Select | NP_073562.1:p.Phe251_Ala254del |