HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18787525_18787530del , CM000681.2:g.18787525_18787530del | GRCh38 |
NC_000019.9:g.18898334_18898339del , CM000681.1:g.18898334_18898339del | GRCh37 |
NC_000019.8:g.18759334_18759339del | NCBI36 |
NG_007070.1:g.8779_8784del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222271.7:c.1099_1104del MANE Select | ENSP00000222271.2:p.Arg367_Gly368del | |
ENST00000222271.6:c.1099_1104del | ENSP00000222271.2:p.Arg367_Gly368del | |
ENST00000425807.1:c.940_945del | ENSP00000403792.1:p.Arg314_Gly315del | |
ENST00000542601.6:c.1000_1005del | ENSP00000439156.2:p.Arg334_Gly335del | |
NM_000095.2:c.1099_1104del | NP_000086.2:p.Arg367_Gly368del | |
NM_000095.3:c.1099_1104del MANE Select | NP_000086.2:p.Arg367_Gly368del |