HGVS | Genome Assembly |
---|---|
NC_000002.12:g.188991681_188991698del , CM000664.2:g.188991681_188991698del | GRCh38 |
NC_000002.11:g.189856407_189856424del , CM000664.1:g.189856407_189856424del | GRCh37 |
NC_000002.10:g.189564652_189564669del | NCBI36 |
NG_007404.1:g.22309_22326del , LRG_3:g.22309_22326del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450867.2:c.910_927del | ENSP00000415346.2:p.Ala304_Gly309del | |
ENST00000304636.9:c.910_927del MANE Select | ENSP00000304408.4:p.Ala304_Gly309del | |
ENST00000304636.7:c.910_927del | ENSP00000304408.3:p.Ala304_Gly309del | |
ENST00000317840.9:c.910_927del | ENSP00000315243.6:p.Ala304_Gly309del | |
ENST00000450867.1:c.8_25del | ||
NM_000090.3:c.910_927del , LRG_3t1:c.910_927del | NP_000081.1:p.Ala304_Gly309del | |
NM_000090.4:c.910_927del MANE Select | NP_000081.2:p.Ala304_Gly309del |