HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215799177_215799178del , CM000663.2:g.215799177_215799178del | GRCh38 |
NC_000001.10:g.215972519_215972520del , CM000663.1:g.215972519_215972520del | GRCh37 |
NC_000001.9:g.214039142_214039143del | NCBI36 |
NG_009497.1:g.629219_629220del | |
NG_009497.2:g.629271_629272del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.9740-53_9740-52del MANE Select | ENSP00000305941.3:n.9740-53_9740-52del | |
ENST00000674083.1:c.9740-53_9740-52del | ENSP00000501296.1:n.9740-53_9740-52del | |
ENST00000307340.7:c.9740-53_9740-52del | ENSP00000305941.3:n.9740-53_9740-52del | |
NM_206933.2:c.9740-53_9740-52del | NP_996816.2:n.9740-53_9740-52del | |
NM_206933.3:c.9740-53_9740-52del | NP_996816.2:n.9740-53_9740-52del | |
NM_206933.4:c.9740-53_9740-52del MANE Select | NP_996816.3:n.9740-53_9740-52del |