HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37715798_37715804del , CM000684.2:g.37715798_37715804del | GRCh38 |
NC_000022.10:g.38111805_38111811del , CM000684.1:g.38111805_38111811del | GRCh37 |
NC_000022.9:g.36441751_36441757del | NCBI36 |
NG_012857.1:g.23811_23817del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000644935.1:c.492_498del MANE Select | ENSP00000496394.1:p.Pro165GlyfsTer6 | |
ENST00000344404.10:c.290_296del | ENSP00000340312.6:p.Pro97LeufsTer19 | |
ENST00000406386.7:c.492_498del | ENSP00000384312.3:p.Pro165GlyfsTer6 | |
ENST00000455236.4:c.1449_1455del | ENSP00000477208.1:n.1449_1455del | |
ENST00000492485.5:n.426_432del | ||
NM_001039141.2:c.492_498del | NP_001034230.1:p.Pro165GlyfsTer6 | |
NM_001039141.3:c.492_498del MANE Select | NP_001034230.1:p.Pro165GlyfsTer6 |