Linked Data
gnomAD v4:
17-72123572-A-AAAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123572_72123573insAAC , CM000679.2:g.72123572_72123573insAAC | GRCh38 |
| NC_000017.10:g.70119713_70119714insAAC , CM000679.1:g.70119713_70119714insAAC | GRCh37 |
| NC_000017.9:g.67631308_67631309insAAC | NCBI36 |
| NG_012490.1:g.7553_7554insAAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.715_716insAAC MANE Select | ENSP00000245479.2:p.Thr239delinsLysPro | |
| ENST00000245479.2:c.715_716insAAC | ENSP00000245479.2:p.Thr239delinsLysPro | |
| NM_000346.3:c.715_716insAAC | NP_000337.1:p.Thr239delinsLysPro | |
| NM_000346.4:c.715_716insAAC MANE Select | NP_000337.1:p.Thr239delinsLysPro |