HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2866697_2866698dup , CM000686.2:g.2866697_2866698dup | GRCh38 |
NC_000024.9:g.2734738_2734739dup , CM000686.1:g.2734738_2734739dup | GRCh37 |
NC_000024.8:g.2794738_2794739dup | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000250784.13:c.691-96_691-95dup MANE Select | ENSP00000250784.7:n.691-96_691-95dup | |
ENST00000250784.12:c.691-96_691-95dup | ENSP00000250784.7:n.691-96_691-95dup | |
ENST00000430575.1:c.718-96_718-95dup | ENSP00000415317.1:n.718-96_718-95dup | |
ENST00000477725.1:n.835-96_835-95dup | ||
ENST00000515575.1:n.42+11926_42+11927dup | ||
NM_001008.3:c.691-96_691-95dup | NP_000999.1:n.691-96_691-95dup | |
NM_001008.4:c.691-96_691-95dup MANE Select | NP_000999.1:n.691-96_691-95dup |