Linked Data
gnomAD v4:
8-24956387-G-GTCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956388_24956389insCCT , CM000670.2:g.24956388_24956389insCCT | GRCh38 |
| NC_000008.10:g.24813902_24813903insCCT , CM000670.1:g.24813902_24813903insCCT | GRCh37 |
| NC_000008.9:g.24869819_24869820insCCT | NCBI36 |
| NG_008492.1:g.5230_5231insGGA , LRG_259:g.5230_5231insGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.2:c.128_129insGGA MANE Select | ENSP00000482169.2:p.Tyr43Ter | |
| ENST00000610854.1:c.128_129insGGA | ENSP00000482169.1:p.Tyr43Ter | |
| ENST00000615973.1:n.334_335insGGA | ||
| ENST00000619417.1:c.128_129insGGA | ENSP00000483690.1:p.Tyr43Ter | |
| NM_006158.4:c.128_129insGGA , LRG_259t1:c.128_129insGGA | NP_006149.2:p.Tyr43Ter | |
| NM_006158.5:c.128_129insGGA MANE Select | NP_006149.2:p.Tyr43Ter |