HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21559002_21559005del , CM000669.2:g.21559002_21559005del | GRCh38 |
NC_000007.13:g.21598620_21598623del , CM000669.1:g.21598620_21598623del | GRCh37 |
NC_000007.12:g.21565145_21565148del | NCBI36 |
NG_012886.2:g.20788_20791del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.692+4_692+7del MANE Select | ENSP00000475939.1:n.692+4_692+7del | |
ENST00000328843.10:c.692+4_692+7del | ENSP00000330671.7:n.692+4_692+7del | |
ENST00000409508.7:c.692+4_692+7del | ENSP00000475939.1:n.692+4_692+7del | |
ENST00000620169.4:c.692+4_692+7del | ENSP00000481693.1:n.692+4_692+7del | |
NM_001277115.1:c.692+4_692+7del | NP_001264044.1:n.692+4_692+7del | |
NM_001277115.2:c.692+4_692+7del MANE Select | NP_001264044.1:n.692+4_692+7del |