HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94423266_94423276del , CM000669.2:g.94423266_94423276del | GRCh38 |
NC_000007.13:g.94052578_94052588del , CM000669.1:g.94052578_94052588del | GRCh37 |
NC_000007.12:g.93890514_93890524del | NCBI36 |
NG_007405.1:g.33706_33716del , LRG_2:g.33706_33716del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297268.11:c.2565+148_2565+158del MANE Select | ENSP00000297268.6:n.2565+148_2565+158del | |
ENST00000297268.10:c.2565+148_2565+158del | ENSP00000297268.6:n.2565+148_2565+158del | |
ENST00000481570.5:n.796_806del | ||
ENST00000620463.1:c.2559+148_2559+158del | ENSP00000477719.1:n.2559+148_2559+158del | |
NM_000089.3:c.2565+148_2565+158del , LRG_2t1:c.2565+148_2565+158del | NP_000080.2:n.2565+148_2565+158del | |
NM_000089.4:c.2565+148_2565+158del MANE Select | NP_000080.2:n.2565+148_2565+158del |