HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48965333_48965338del , CM000681.2:g.48965333_48965338del | GRCh38 |
NC_000019.9:g.49468590_49468595del , CM000681.1:g.49468590_49468595del | GRCh37 |
NC_000019.8:g.54160402_54160407del | NCBI36 |
NG_008152.1:g.5025_5030del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331825.11:c.-175_-170del MANE Select | ENSP00000366525.2:n.-175_-170del | |
ENST00000331825.10:c.-175_-170del | ENSP00000366525.2:n.-175_-170del | |
ENST00000622577.2:c.-175_-170del | ENSP00000484043.1:n.-175_-170del | |
NM_000146.3:c.-175_-170del | NP_000137.2:n.-175_-170del | |
XM_024451447.1:c.336_341del | XP_024307215.1:p.Ser113_Leu114del | |
NM_000146.4:c.-175_-170del MANE Select | NP_000137.2:n.-175_-170del |