HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189006568del , CM000664.2:g.189006568del | GRCh38 |
NC_000002.11:g.189871294del , CM000664.1:g.189871294del | GRCh37 |
NC_000002.10:g.189579539del | NCBI36 |
NG_007404.1:g.37196del , LRG_3:g.37196del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450867.2:c.3102+116del | ENSP00000415346.2:n.3102+116del | |
ENST00000304636.9:c.3201+116del MANE Select | ENSP00000304408.4:n.3201+116del | |
ENST00000304636.7:c.3201+116del | ENSP00000304408.3:n.3201+116del | |
ENST00000317840.9:c.2528-1486del | ENSP00000315243.6:n.2528-1486del | |
NM_000090.3:c.3201+116del , LRG_3t1:c.3201+116del | NP_000081.1:n.3201+116del | |
NM_000090.4:c.3201+116del MANE Select | NP_000081.2:n.3201+116del |