HGVS | Genome Assembly |
---|---|
NC_000010.11:g.119672299_119672301del , CM000672.2:g.119672299_119672301del | GRCh38 |
NC_000010.10:g.121431811_121431813del , CM000672.1:g.121431811_121431813del | GRCh37 |
NC_000010.9:g.121421801_121421803del | NCBI36 |
NG_016125.1:g.25930_25932del , LRG_742:g.25930_25932del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369085.8:c.552_554del MANE Select | ENSP00000358081.4:p.Ser185del | |
ENST00000369085.7:c.552_554del | ENSP00000358081.3:p.Ser185del | |
ENST00000450186.1:c.378_380del | ENSP00000410036.1:p.Ser127del | |
NM_004281.3:c.552_554del , LRG_742t1:c.552_554del | NP_004272.2:p.Ser185del | |
XM_005270287.1:c.552_554del | XP_005270344.1:p.Ser185del | |
XM_005270287.2:c.552_554del | XP_005270344.1:p.Ser185del | |
NM_004281.4:c.552_554del MANE Select | NP_004272.2:p.Ser185del |