HGVS | Genome Assembly |
---|---|
NC_000022.11:g.19724480_19724501dup , CM000684.2:g.19724480_19724501dup | GRCh38 |
NC_000022.10:g.19712003_19712024dup , CM000684.1:g.19712003_19712024dup | GRCh37 |
NC_000022.9:g.18092003_18092024dup | NCBI36 |
NG_007974.1:g.5938_5959dup , LRG_478:g.5938_5959dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366425.4:c.*16_*37dup (GP1BB) MANE Select | ENSP00000383382.2:n.*16_*37dup | |
ENST00000366425.3:c.*16_*37dup (GP1BB) | ENSP00000383382.2:n.*16_*37dup | |
ENST00000431044.5:c.*1722_*1743dup (SEPTIN5) | ENSP00000399685.1:n.*1722_*1743dup | |
NM_000407.4:c.*16_*37dup , LRG_478t1:c.*16_*37dup (GP1BB) | NP_000398.1:n.*16_*37dup | |
NR_037611.1:n.4377_4398dup | ||
NR_037612.1:n.2881_2902dup | ||
NM_000407.5:c.*16_*37dup (GP1BB) MANE Select | NP_000398.1:n.*16_*37dup |