HGVS | Genome Assembly |
---|---|
NC_000023.11:g.25007417_25007418delinsGC , CM000685.2:g.25007417_25007418delinsGC | GRCh38 |
NC_000023.10:g.25025534_25025535delinsGC , CM000685.1:g.25025534_25025535delinsGC | GRCh37 |
NC_000023.9:g.24935455_24935456delinsGC | NCBI36 |
NG_008281.1:g.13531_13532delinsGC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379044.5:c.1141_1142delinsGC MANE Select | ENSP00000368332.4:p.Ala381= | |
ENST00000379044.4:c.1141_1142delinsGC | ENSP00000368332.4:p.Ala381= | |
NM_139058.2:c.1141_1142delinsGC | NP_620689.1:p.Ala381= | |
NM_139058.3:c.1141_1142delinsGC MANE Select | NP_620689.1:p.Ala381= |