HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23421015_23421017dup , CM000676.2:g.23421015_23421017dup | GRCh38 |
NC_000014.8:g.23890224_23890226dup , CM000676.1:g.23890224_23890226dup | GRCh37 |
NC_000014.7:g.22960064_22960066dup | NCBI36 |
NG_007884.1:g.19646_19648dup , LRG_384:g.19646_19648dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.3278_3280dup MANE Select | ENSP00000347507.3:p.Arg1093_Ile1094insArg | |
ENST00000355349.3:c.3278_3280dup | ENSP00000347507.3:p.Arg1093_Ile1094insArg | |
NM_000257.3:c.3278_3280dup | NP_000248.2:p.Arg1093_Ile1094insArg | |
XR_245686.3:n.3386_3388dup | ||
XM_017021340.1:c.3278_3280dup | XP_016876829.1:p.Arg1093_Ile1094insArg | |
NM_000257.4:c.3278_3280dup MANE Select | NP_000248.2:p.Arg1093_Ile1094insArg |