HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215799249_215799252del , CM000663.2:g.215799249_215799252del | GRCh38 |
NC_000001.10:g.215972591_215972594del , CM000663.1:g.215972591_215972594del | GRCh37 |
NC_000001.9:g.214039214_214039217del | NCBI36 |
NG_009497.1:g.629145_629148del | |
NG_009497.2:g.629197_629200del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.9740-127_9740-124del MANE Select | ENSP00000305941.3:n.9740-127_9740-124del | |
ENST00000674083.1:c.9740-127_9740-124del | ENSP00000501296.1:n.9740-127_9740-124del | |
ENST00000307340.7:c.9740-127_9740-124del | ENSP00000305941.3:n.9740-127_9740-124del | |
NM_206933.2:c.9740-127_9740-124del | NP_996816.2:n.9740-127_9740-124del | |
NM_206933.3:c.9740-127_9740-124del | NP_996816.2:n.9740-127_9740-124del | |
NM_206933.4:c.9740-127_9740-124del MANE Select | NP_996816.3:n.9740-127_9740-124del |