Linked Data
gnomAD v4:
17-41583345-G-GGGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583345_41583346insGGT , CM000679.2:g.41583345_41583346insGGT | GRCh38 |
| NC_000017.10:g.39739597_39739598insGGT , CM000679.1:g.39739597_39739598insGGT | GRCh37 |
| NC_000017.9:g.36993123_36993124insGGT | NCBI36 |
| NG_008624.1:g.8550_8551insACC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1163_1164insACC MANE Select | ENSP00000167586.6:p.Arg388_Cys389insPro | |
| ENST00000167586.6:c.1163_1164insACC | ENSP00000167586.6:p.Arg388_Cys389insPro | |
| ENST00000441550.2:n.110_111insACC | ||
| ENST00000476662.1:n.613_614insACC | ||
| NM_000526.4:c.1163_1164insACC | NP_000517.2:p.Arg388_Cys389insPro | |
| NM_000526.5:c.1163_1164insACC MANE Select | NP_000517.3:p.Arg388_Cys389insPro |