HGVS | Genome Assembly |
---|---|
NC_000021.9:g.31660049_31660072del , CM000683.2:g.31660049_31660072del | GRCh38 |
NC_000021.8:g.33032362_33032385del , CM000683.1:g.33032362_33032385del | GRCh37 |
NC_000021.7:g.31954233_31954256del | NCBI36 |
NG_008689.1:g.5428_5451del , LRG_652:g.5428_5451del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270142.11:c.72+208_72+231del MANE Select | ENSP00000270142.7:n.72+208_72+231del | |
ENST00000270142.10:c.72+208_72+231del | ENSP00000270142.6:n.72+208_72+231del | |
ENST00000389995.4:c.15+265_15+288del | ENSP00000374645.4:n.15+265_15+288del | |
ENST00000470944.1:n.341_364del | ||
ENST00000476106.5:n.149+208_149+231del | ||
NM_000454.4:c.72+208_72+231del , LRG_652t1:c.72+208_72+231del | NP_000445.1:n.72+208_72+231del | |
NM_000454.5:c.72+208_72+231del MANE Select | NP_000445.1:n.72+208_72+231del |