HGVS | Genome Assembly |
---|---|
NC_000001.11:g.152310883_152310884del , CM000663.2:g.152310883_152310884del | GRCh38 |
NC_000001.10:g.152283359_152283360del , CM000663.1:g.152283359_152283360del | GRCh37 |
NC_000001.9:g.150549983_150549984del | NCBI36 |
NG_016190.1:g.19322_19323del , LRG_1028:g.19322_19323del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368799.2:c.4004_4005del MANE Select | ENSP00000357789.1:p.Glu1335ValfsTer12 | |
ENST00000368799.1:c.4004_4005del | ENSP00000357789.1:p.Glu1335ValfsTer12 | |
NM_002016.1:c.4004_4005del , LRG_1028t1:c.4004_4005del | NP_002007.1:p.Glu1335ValfsTer12 | |
XM_011509329.1:c.4004_4005del | XP_011507631.1:p.Glu1335ValfsTer12 | |
NM_002016.2:c.4004_4005del MANE Select | NP_002007.1:p.Glu1335ValfsTer12 |