HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11847677_11847679del , CM000663.2:g.11847677_11847679del | GRCh38 |
NC_000001.10:g.11907734_11907736del , CM000663.1:g.11907734_11907736del | GRCh37 |
NC_000001.9:g.11830321_11830323del | NCBI36 |
NG_012926.1:g.5107_5109del , LRG_751:g.5107_5109del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000400892.3:c.*2062_*2064del (CLCN6) | ENSP00000496938.1:n.*2062_*2064del | |
ENST00000446542.5:n.1025_1027del (NPPA-AS1) | ||
ENST00000376476.1:c.-27-238_-27-236del (NPPA) | ENSP00000365659.1:n.-27-238_-27-236del | |
ENST00000376480.7:c.8_10del (NPPA) MANE Select | ENSP00000365663.3:p.Ser3del | |
ENST00000610706.1:c.8_10del (NPPA) | ENSP00000483195.1:p.Ser3del | |
NM_006172.3:c.8_10del , LRG_751t1:c.8_10del (NPPA) | NP_006163.1:p.Ser3del | |
NM_006172.4:c.8_10del (NPPA) MANE Select | NP_006163.1:p.Ser3del |