HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154953931_154953934dup , CM000685.2:g.154953931_154953934dup | GRCh38 |
NC_000023.10:g.154182206_154182209dup , CM000685.1:g.154182206_154182209dup | GRCh37 |
NC_000023.9:g.153835400_153835403dup | NCBI36 |
NG_011403.1:g.73790_73793dup | |
NG_011403.2:g.73790_73793dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.1861_1864dup MANE Select | ENSP00000353393.4:p.Leu622ProfsTer3 | |
ENST00000647125.1:c.*1737_*1740dup | ENSP00000496062.1:n.*1737_*1740dup | |
ENST00000360256.8:c.1861_1864dup | ENSP00000353393.4:p.Leu622ProfsTer3 | |
NM_000132.3:c.1861_1864dup | NP_000123.1:p.Leu622ProfsTer3 | |
XM_011531126.1:c.1756_1759dup | XP_011529428.1:p.Leu587ProfsTer3 | |
NM_000132.4:c.1861_1864dup MANE Select | NP_000123.1:p.Leu622ProfsTer3 |