HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232539811_232539814del , CM000664.2:g.232539811_232539814del | GRCh38 |
NC_000002.11:g.233404521_233404524del , CM000664.1:g.233404521_233404524del | GRCh37 |
NC_000002.10:g.233112765_233112768del | NCBI36 |
NG_012954.1:g.5085_5088del | |
NG_012954.2:g.5120_5123del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651502.1:c.55+9_55+12del MANE Select | ENSP00000498757.1:n.55+9_55+12del | |
ENST00000389492.3:c.55+9_55+12del | ENSP00000374143.3:n.55+9_55+12del | |
ENST00000389494.7:c.55+9_55+12del | ENSP00000374145.3:n.55+9_55+12del | |
ENST00000485094.1:n.76+9_76+12del | ||
NM_005199.4:c.55+9_55+12del | NP_005190.4:n.55+9_55+12del | |
NM_005199.5:c.55+9_55+12del MANE Select | NP_005190.4:n.55+9_55+12del |