HGVS | Genome Assembly |
---|---|
NC_000002.12:g.169504511_169504513del , CM000664.2:g.169504511_169504513del | GRCh38 |
NC_000002.11:g.170361021_170361023del , CM000664.1:g.170361021_170361023del | GRCh37 |
NC_000002.10:g.170069267_170069269del | NCBI36 |
NG_011567.1:g.30016_30018del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295240.8:c.955_957del MANE Select | ENSP00000295240.3:p.Glu319del | |
ENST00000295240.7:c.955_957del | ENSP00000295240.3:p.Glu319del | |
ENST00000392663.6:c.892_894del | ENSP00000376431.2:p.Glu298del | |
ENST00000472667.1:n.726_728del | ||
ENST00000513963.1:c.924+185_924+187del | ENSP00000424363.1:n.924+185_924+187del | |
NM_152384.2:c.955_957del | NP_689597.1:p.Glu319del | |
NM_152384.3:c.955_957del MANE Select | NP_689597.1:p.Glu319del |