HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48410960_48410964del , CM000677.2:g.48410960_48410964del | GRCh38 |
NC_000015.9:g.48703157_48703161del , CM000677.1:g.48703157_48703161del | GRCh37 |
NC_000015.8:g.46490449_46490453del | NCBI36 |
NG_008805.2:g.239829_239833del , LRG_778:g.239829_239833del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.*1454_*1458del | ENSP00000453958.2:n.*1454_*1458del | |
ENST00000682158.1:n.2027_2031del | ||
ENST00000682170.1:n.2827_2831del | ||
ENST00000682767.1:n.1943_1947del | ||
ENST00000316623.10:c.*30_*34del MANE Select | ENSP00000325527.5:n.*30_*34del | |
ENST00000316623.9:c.*30_*34del | ENSP00000325527.5:n.*30_*34del | |
ENST00000559133.5:c.4015_4019del | ||
NM_000138.4:c.*30_*34del , LRG_778t1:c.*30_*34del | NP_000129.3:n.*30_*34del | |
NM_000138.5:c.*30_*34del MANE Select | NP_000129.3:n.*30_*34del |