HGVS | Genome Assembly |
---|---|
NC_000006.12:g.49459087_49459098del , CM000668.2:g.49459087_49459098del | GRCh38 |
NC_000006.11:g.49426800_49426811del , CM000668.1:g.49426800_49426811del | GRCh37 |
NC_000006.10:g.49534759_49534770del | NCBI36 |
NG_007100.1:g.9047_9058del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274813.4:c.374_385del MANE Select | ENSP00000274813.3:p.Asp125_Lys128del | |
ENST00000274813.3:c.374_385del | ENSP00000274813.3:p.Asp125_Lys128del | |
NM_000255.3:c.374_385del | NP_000246.2:p.Asp125_Lys128del | |
XM_005249143.2:c.374_385del | XP_005249200.1:p.Asp125_Lys128del | |
XM_005249143.3:c.374_385del | XP_005249200.1:p.Asp125_Lys128del | |
NM_000255.4:c.374_385del MANE Select | NP_000246.2:p.Asp125_Lys128del |