HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18787604_18787609del , CM000681.2:g.18787604_18787609del | GRCh38 |
NC_000019.9:g.18898413_18898418del , CM000681.1:g.18898413_18898418del | GRCh37 |
NC_000019.8:g.18759413_18759418del | NCBI36 |
NG_007070.1:g.8701_8706del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000222271.7:c.1021_1026del MANE Select | ENSP00000222271.2:p.Glu341_Asp342del | |
ENST00000222271.6:c.1021_1026del | ENSP00000222271.2:p.Glu341_Asp342del | |
ENST00000425807.1:c.862_867del | ENSP00000403792.1:p.Glu288_Asp289del | |
ENST00000542601.6:c.922_927del | ENSP00000439156.2:p.Glu308_Asp309del | |
NM_000095.2:c.1021_1026del | NP_000086.2:p.Glu341_Asp342del | |
NM_000095.3:c.1021_1026del MANE Select | NP_000086.2:p.Glu341_Asp342del |