HGVS | Genome Assembly |
---|---|
NC_000022.11:g.19724357_19724359dup , CM000684.2:g.19724357_19724359dup | GRCh38 |
NC_000022.10:g.19711880_19711882dup , CM000684.1:g.19711880_19711882dup | GRCh37 |
NC_000022.9:g.18091880_18091882dup | NCBI36 |
NG_007974.1:g.5815_5817dup , LRG_478:g.5815_5817dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366425.4:c.514_516dup (GP1BB) MANE Select | ENSP00000383382.2:p.Leu172_Cys173insLeu | |
ENST00000366425.3:c.514_516dup (GP1BB) | ENSP00000383382.2:p.Leu172_Cys173insLeu | |
ENST00000431044.5:c.*1599_*1601dup (SEPTIN5) | ENSP00000399685.1:n.*1599_*1601dup | |
NM_000407.4:c.514_516dup , LRG_478t1:c.514_516dup (GP1BB) | NP_000398.1:p.Leu172_Cys173insLeu | |
NR_037611.1:n.4254_4256dup | ||
NR_037612.1:n.2758_2760dup | ||
NM_000407.5:c.514_516dup (GP1BB) MANE Select | NP_000398.1:p.Leu172_Cys173insLeu |