HGVS | Genome Assembly |
---|---|
NC_000019.10:g.43551873_43551874del , CM000681.2:g.43551873_43551874del | GRCh38 |
NC_000019.9:g.44056025_44056026del , CM000681.1:g.44056025_44056026del | GRCh37 |
NC_000019.8:g.48747865_48747866del | NCBI36 |
NG_033799.1:g.28705_28706del , LRG_784:g.28705_28706del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262887.10:c.1082+143_1082+144del MANE Select | ENSP00000262887.5:n.1082+143_1082+144del | |
ENST00000262887.9:c.1082+143_1082+144del | ENSP00000262887.4:n.1082+143_1082+144del | |
ENST00000543982.5:c.989+143_989+144del | ENSP00000443671.1:n.989+143_989+144del | |
ENST00000597811.5:c.692+143_692+144del | ||
NM_006297.2:c.1082+143_1082+144del , LRG_784t1:c.1082+143_1082+144del | NP_006288.2:n.1082+143_1082+144del | |
NM_006297.3:c.1082+143_1082+144del MANE Select | NP_006288.2:n.1082+143_1082+144del |