HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17022657del , CM000663.2:g.17022657del | GRCh38 |
NC_000001.10:g.17349152del , CM000663.1:g.17349152del | GRCh37 |
NC_000001.9:g.17221739del | NCBI36 |
NG_012340.1:g.36514del , LRG_316:g.36514del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000463045.3:c.545del | ENSP00000481376.2:p.Ser182PhefsTer9 | |
ENST00000491274.6:c.674del | ENSP00000480482.2:p.Ser225PhefsTer9 | |
ENST00000375499.8:c.716del MANE Select | ENSP00000364649.3:p.Ser239PhefsTer9 | |
ENST00000375499.7:c.716del | ENSP00000364649.3:p.Ser239PhefsTer9 | |
ENST00000475049.5:n.141del | ||
ENST00000485092.5:n.380del | ||
ENST00000485515.5:n.650del | ||
NM_003000.2:c.716del , LRG_316t1:c.716del | NP_002991.2:p.Ser239PhefsTer9 | |
NM_003000.3:c.716del MANE Select | NP_002991.2:p.Ser239PhefsTer9 |