HGVS | Genome Assembly |
---|---|
NC_000007.14:g.95324383_95324387del , CM000669.2:g.95324383_95324387del | GRCh38 |
NC_000007.13:g.94953695_94953699del , CM000669.1:g.94953695_94953699del | GRCh37 |
NC_000007.12:g.94791631_94791635del | NCBI36 |
NG_008779.1:g.5188_5192del | |
NG_008779.2:g.5322_5326del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222381.8:c.74+17_74+21del MANE Select | ENSP00000222381.3:n.74+17_74+21del | |
ENST00000222381.7:c.74+17_74+21del | ENSP00000222381.3:n.74+17_74+21del | |
ENST00000433729.1:c.74+17_74+21del | ENSP00000407359.1:n.74+17_74+21del | |
NM_000446.5:c.74+17_74+21del | NP_000437.3:n.74+17_74+21del | |
NM_000446.6:c.74+17_74+21del | NP_000437.3:n.74+17_74+21del | |
NM_000446.7:c.74+17_74+21del MANE Select | NP_000437.3:n.74+17_74+21del |