HGVS | Genome Assembly |
---|---|
NC_000006.12:g.49458982_49458983del , CM000668.2:g.49458982_49458983del | GRCh38 |
NC_000006.11:g.49426695_49426696del , CM000668.1:g.49426695_49426696del | GRCh37 |
NC_000006.10:g.49534654_49534655del | NCBI36 |
NG_007100.1:g.9159_9160del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000274813.4:c.385+101_385+102del MANE Select | ENSP00000274813.3:n.385+101_385+102del | |
ENST00000274813.3:c.385+101_385+102del | ENSP00000274813.3:n.385+101_385+102del | |
NM_000255.3:c.385+101_385+102del | NP_000246.2:n.385+101_385+102del | |
XM_005249143.2:c.385+101_385+102del | XP_005249200.1:n.385+101_385+102del | |
XM_005249143.3:c.385+101_385+102del | XP_005249200.1:n.385+101_385+102del | |
NM_000255.4:c.385+101_385+102del MANE Select | NP_000246.2:n.385+101_385+102del |