HGVS | Genome Assembly |
---|---|
NC_000001.11:g.154571705_154571706del , CM000663.2:g.154571705_154571706del | GRCh38 |
NC_000001.10:g.154544181_154544182del , CM000663.1:g.154544181_154544182del | GRCh37 |
NC_000001.9:g.152810805_152810806del | NCBI36 |
NG_008027.1:g.8925_8926del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368476.4:c.882_883del MANE Select | ENSP00000357461.3:p.Pro295AlafsTer? | |
ENST00000636034.1:c.882_883del | ENSP00000489703.1:p.Pro295AlafsTer? | |
ENST00000637900.1:c.888_889del | ENSP00000490474.1:p.Pro297AlafsTer? | |
ENST00000368476.3:c.882_883del | ENSP00000357461.3:p.Pro295AlafsTer? | |
NM_000748.2:c.882_883del | NP_000739.1:p.Pro295AlafsTer? | |
XM_017000180.2:c.372_373del | XP_016855669.1:p.Pro125AlafsTer? | |
XR_001736952.2:n.1134_1135del | ||
NM_000748.3:c.882_883del MANE Select | NP_000739.1:p.Pro295AlafsTer? |