HGVS | Genome Assembly |
---|---|
NC_000023.11:g.137566838_137566852dup , CM000685.2:g.137566838_137566852dup | GRCh38 |
NC_000023.10:g.136648997_136649011dup , CM000685.1:g.136648997_136649011dup | GRCh37 |
NC_000023.9:g.136476663_136476677dup | NCBI36 |
NG_008115.1:g.5652_5666dup | |
NG_008115.2:g.5712_5726dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287538.10:c.147_161dup MANE Select | ENSP00000287538.5:p.Ala54_Ala55insAlaAlaAlaAlaAla | |
ENST00000287538.9:c.147_161dup | ENSP00000287538.5:p.Ala54_Ala55insAlaAlaAlaAlaAla | |
ENST00000370606.3:c.147_161dup | ENSP00000359638.3:p.Ala54_Ala55insAlaAlaAlaAlaAla | |
NM_003413.3:c.147_161dup | NP_003404.1:p.Ala54_Ala55insAlaAlaAlaAlaAla | |
NM_001330661.1:c.147_161dup | NP_001317590.1:p.Ala54_Ala55insAlaAlaAlaAlaAla | |
NM_003413.4:c.147_161dup MANE Select | NP_003404.1:p.Ala54_Ala55insAlaAlaAlaAlaAla |