HGVS | Genome Assembly |
---|---|
NC_000008.11:g.118947964_118947967del , CM000670.2:g.118947964_118947967del | GRCh38 |
NC_000008.10:g.119960203_119960206del , CM000670.1:g.119960203_119960206del | GRCh37 |
NC_000008.9:g.120029384_120029387del | NCBI36 |
NG_012202.1:g.9180_9183del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297350.9:c.30+3827_30+3830del MANE Select | ENSP00000297350.4:n.30+3827_30+3830del | |
ENST00000297350.8:c.30+3827_30+3830del | ENSP00000297350.4:n.30+3827_30+3830del | |
ENST00000517352.1:c.30+3827_30+3830del | ENSP00000427924.1:n.30+3827_30+3830del | |
NM_002546.3:c.30+3827_30+3830del | NP_002537.3:n.30+3827_30+3830del | |
NM_002546.4:c.30+3827_30+3830del MANE Select | NP_002537.3:n.30+3827_30+3830del |