HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186085834_186085835del , CM000666.2:g.186085834_186085835del | GRCh38 |
NC_000004.11:g.187006988_187006989del , CM000666.1:g.187006988_187006989del | GRCh37 |
NC_000004.10:g.187243982_187243983del | NCBI36 |
NG_007278.1:g.21680_21681del , LRG_117:g.21680_21681del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698352.1:c.*3228_*3229del | ENSP00000513675.1:n.*3228_*3229del | |
ENST00000698353.1:n.3551_3552del | ||
ENST00000698354.1:c.*961_*962del | ENSP00000513676.1:n.*961_*962del | |
ENST00000296795.8:c.*961_*962del MANE Select | ENSP00000296795.3:n.*961_*962del | |
ENST00000296795.7:c.*961_*962del | ENSP00000296795.2:n.*961_*962del | |
NM_003265.3:c.*961_*962del MANE Select | NP_003256.1:n.*961_*962del |