HGVS | Genome Assembly |
---|---|
NC_000002.12:g.188999465_188999466del , CM000664.2:g.188999465_188999466del | GRCh38 |
NC_000002.11:g.189864191_189864192del , CM000664.1:g.189864191_189864192del | GRCh37 |
NC_000002.10:g.189572436_189572437del | NCBI36 |
NG_007404.1:g.30093_30094del , LRG_3:g.30093_30094del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450867.2:c.2023-5_2023-4del | ENSP00000415346.2:n.2023-5_2023-4del | |
ENST00000304636.9:c.2122-5_2122-4del MANE Select | ENSP00000304408.4:n.2122-5_2122-4del | |
ENST00000304636.7:c.2122-5_2122-4del | ENSP00000304408.3:n.2122-5_2122-4del | |
ENST00000317840.9:c.2122-5_2122-4del | ENSP00000315243.6:n.2122-5_2122-4del | |
NM_000090.3:c.2122-5_2122-4del , LRG_3t1:c.2122-5_2122-4del | NP_000081.1:n.2122-5_2122-4del | |
NM_000090.4:c.2122-5_2122-4del MANE Select | NP_000081.2:n.2122-5_2122-4del |