ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8013961_8013962delinsAT , CM000679.2:g.8013961_8013962delinsAT | GRCh38 |
| NC_000017.10:g.7917279_7917280delinsAT , CM000679.1:g.7917279_7917280delinsAT | GRCh37 |
| NC_000017.9:g.7858004_7858005delinsAT | NCBI36 |
| NG_009092.1:g.16292_16293delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.2345_2346delinsAT MANE Select | ENSP00000254854.4:p.Leu782His | |
| ENST00000254854.4:c.2345_2346delinsAT | ENSP00000254854.4:p.Leu782His | |
| NM_000180.3:c.2345_2346delinsAT | NP_000171.1:p.Leu782His | |
| XM_011523816.1:c.2345_2346delinsAT | XP_011522118.1:p.Leu782His | |
| NM_000180.4:c.2345_2346delinsAT MANE Select | NP_000171.1:p.Leu782His |