HGVS | Genome Assembly |
---|---|
NC_000017.11:g.29534232_29534236del , CM000679.2:g.29534232_29534236del | GRCh38 |
NC_000017.10:g.27861250_27861254del , CM000679.1:g.27861250_27861254del | GRCh37 |
NC_000017.9:g.24885376_24885380del | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261716.8:c.2476_2480del MANE Select | ENSP00000261716.3:p.Gln826Ter | |
ENST00000261716.7:c.2476_2480del | ENSP00000261716.3:p.Gln826Ter | |
ENST00000536202.1:c.2032_2036del | ENSP00000438819.1:p.Gln678Ter | |
NM_020791.2:c.2476_2480del | NP_065842.1:p.Gln826Ter | |
NM_025142.1:c.2032_2036del | NP_079418.1:p.Gln678Ter | |
XM_011525060.1:c.2476_2480del | XP_011523362.1:p.Gln826Ter | |
XM_011525060.2:c.2476_2480del | XP_011523362.1:p.Gln826Ter | |
NM_020791.4:c.2476_2480del MANE Select | NP_065842.1:p.Gln826Ter |