HGVS | Genome Assembly |
---|---|
NC_000021.9:g.31660036_31660041del , CM000683.2:g.31660036_31660041del | GRCh38 |
NC_000021.8:g.33032349_33032354del , CM000683.1:g.33032349_33032354del | GRCh37 |
NC_000021.7:g.31954220_31954225del | NCBI36 |
NG_008689.1:g.5415_5420del , LRG_652:g.5415_5420del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270142.11:c.72+195_72+200del MANE Select | ENSP00000270142.7:n.72+195_72+200del | |
ENST00000270142.10:c.72+195_72+200del | ENSP00000270142.6:n.72+195_72+200del | |
ENST00000389995.4:c.15+252_15+257del | ENSP00000374645.4:n.15+252_15+257del | |
ENST00000470944.1:n.328_333del | ||
ENST00000476106.5:n.149+195_149+200del | ||
NM_000454.4:c.72+195_72+200del , LRG_652t1:c.72+195_72+200del | NP_000445.1:n.72+195_72+200del | |
NM_000454.5:c.72+195_72+200del MANE Select | NP_000445.1:n.72+195_72+200del |