Linked Data
gnomAD v4:
8-10622722-C-CAGGAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622723_10622724insGGAGA , CM000670.2:g.10622723_10622724insGGAGA | GRCh38 |
| NC_000008.10:g.10480233_10480234insGGAGA , CM000670.1:g.10480233_10480234insGGAGA | GRCh37 |
| NC_000008.9:g.10517643_10517644insGGAGA | NCBI36 |
| NG_028035.1:g.37385_37386insCTCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.479_480insCTCCT MANE Select | ENSP00000371923.3:p.Met160IlefsTer? | |
| ENST00000329335.3:n.729_730insCTCCT | ||
| ENST00000382483.3:c.479_480insCTCCT | ENSP00000371923.3:p.Met160IlefsTer? | |
| NM_178857.5:c.479_480insCTCCT | NP_849188.4:p.Met160IlefsTer? | |
| NM_178857.6:c.479_480insCTCCT MANE Select | NP_849188.4:p.Met160IlefsTer? |