HGVS | Genome Assembly |
---|---|
NC_000011.10:g.69648076_69648085del , CM000673.2:g.69648076_69648085del | GRCh38 |
NC_000011.9:g.69462844_69462853del , CM000673.1:g.69462844_69462853del | GRCh37 |
NC_000011.8:g.69172025_69172034del | NCBI36 |
NG_007375.1:g.11972_11981del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227507.3:c.657_666del MANE Select | ENSP00000227507.2:p.Pro220SerfsTer14 | |
ENST00000227507.2:c.657_666del | ENSP00000227507.2:p.Pro220SerfsTer14 | |
ENST00000536559.1:c.*77_*86del | ENSP00000438482.1:n.*77_*86del | |
ENST00000542367.1:n.120_129del | ||
ENST00000545484.1:n.363_372del | ||
NM_053056.2:c.657_666del | NP_444284.1:p.Pro220SerfsTer14 | |
XM_006718653.2:c.681_690del | XP_006718716.1:p.Pro228SerfsTer14 | |
NM_053056.3:c.657_666del MANE Select | NP_444284.1:p.Pro220SerfsTer14 |