HGVS | Genome Assembly |
---|---|
NC_000001.11:g.114709483_114709485del , CM000663.2:g.114709483_114709485del | GRCh38 |
NC_000001.10:g.115252104_115252106del , CM000663.1:g.115252104_115252106del | GRCh37 |
NC_000001.9:g.115053627_115053629del | NCBI36 |
NG_007572.1:g.12415_12417del , LRG_92:g.12415_12417del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369535.5:c.450+89_450+91del MANE Select | ENSP00000358548.4:n.450+89_450+91del | |
ENST00000369535.4:c.450+89_450+91del | ENSP00000358548.4:n.450+89_450+91del | |
NM_002524.4:c.450+89_450+91del | NP_002515.1:n.450+89_450+91del | |
NM_002524.5:c.450+89_450+91del MANE Select | NP_002515.1:n.450+89_450+91del |