HGVS | Genome Assembly |
---|---|
NC_000019.10:g.40285357del , CM000681.2:g.40285357del | GRCh38 |
NC_000019.9:g.40791264del , CM000681.1:g.40791264del | GRCh37 |
NC_000019.8:g.45483104del | NCBI36 |
NG_012038.2:g.5009del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000391844.8:c.-300del | ENSP00000375719.4:n.-300del | |
ENST00000392038.6:c.-254del | ENSP00000375892.2:n.-254del | |
ENST00000424901.5:c.-254del | ENSP00000399532.2:n.-254del | |
ENST00000578123.5:c.-85+98del | ENSP00000462022.1:n.-85+98del | |
NM_001243027.2:c.-403del | NP_001229956.1:n.-403del | |
NM_001243028.2:c.-310del | NP_001229957.1:n.-310del | |
NM_001626.5:c.-254del | NP_001617.1:n.-254del | |
XM_011526620.1:c.-85+98del | XP_011524922.1:n.-85+98del |