HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232546325_232546328dup , CM000664.2:g.232546325_232546328dup | GRCh38 |
NC_000002.11:g.233411035_233411038dup , CM000664.1:g.233411035_233411038dup | GRCh37 |
NC_000002.10:g.233119279_233119282dup | NCBI36 |
NG_012954.1:g.11599_11602dup | |
NG_012954.2:g.11634_11637dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000408957.7:c.*1795_*1798dup (TIGD1) MANE Select | ENSP00000386186.3:n.*1795_*1798dup | |
ENST00000651502.1:c.*609_*612dup (CHRNG) MANE Select | ENSP00000498757.1:n.*609_*612dup | |
ENST00000389494.7:c.*609_*612dup (CHRNG) | ENSP00000374145.3:n.*609_*612dup | |
NM_005199.5:c.*609_*612dup (CHRNG) MANE Select | NP_005190.4:n.*609_*612dup | |
NM_145702.4:c.*1795_*1798dup (TIGD1) MANE Select | NP_663748.1:n.*1795_*1798dup |