HGVS | Genome Assembly |
---|---|
NC_000017.11:g.72123594_72123595delinsAG , CM000679.2:g.72123594_72123595delinsAG | GRCh38 |
NC_000017.10:g.70119735_70119736delinsAG , CM000679.1:g.70119735_70119736delinsAG | GRCh37 |
NC_000017.9:g.67631330_67631331delinsAG | NCBI36 |
NG_012490.1:g.7575_7576delinsAG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000245479.3:c.737_738delinsAG MANE Select | ENSP00000245479.2:p.Gln246= | |
ENST00000245479.2:c.737_738delinsAG | ENSP00000245479.2:p.Gln246= | |
NM_000346.3:c.737_738delinsAG | NP_000337.1:p.Gln246= | |
NM_000346.4:c.737_738delinsAG MANE Select | NP_000337.1:p.Gln246= |