HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107779676_107779677del , CM000669.2:g.107779676_107779677del | GRCh38 |
NC_000007.13:g.107420121_107420122del , CM000669.1:g.107420121_107420122del | GRCh37 |
NC_000007.12:g.107207357_107207358del | NCBI36 |
NG_008046.1:g.28559_28560del , LRG_683:g.28559_28560del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000340010.10:c.1400_1401del MANE Select | ENSP00000345873.5:p.Tyr467Ter | |
ENST00000340010.9:c.1400_1401del | ENSP00000345873.5:p.Tyr467Ter | |
ENST00000379083.7:c.*1191_*1192del | ENSP00000368375.3:n.*1191_*1192del | |
NM_000111.2:c.1400_1401del , LRG_683t1:c.1400_1401del | NP_000102.1:p.Tyr467Ter | |
XM_011515867.1:c.1400_1401del | XP_011514169.1:p.Tyr467Ter | |
NM_000111.3:c.1400_1401del MANE Select | NP_000102.1:p.Tyr467Ter |