HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149977938_149977939del , CM000667.2:g.149977938_149977939del | GRCh38 |
NC_000005.9:g.149357501_149357502del , CM000667.1:g.149357501_149357502del | GRCh37 |
NC_000005.8:g.149337694_149337695del | NCBI36 |
NG_007147.2:g.19056_19057del , LRG_684:g.19056_19057del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000690410.1:n.518_519del | ||
ENST00000286298.5:c.286_287del MANE Select | ENSP00000286298.4:p.Leu96AlafsTer? | |
ENST00000286298.4:c.286_287del | ENSP00000286298.4:p.Leu96AlafsTer? | |
NM_000112.3:c.286_287del , LRG_684t1:c.286_287del | NP_000103.2:p.Leu96AlafsTer? | |
XM_017009191.2:c.286_287del | XP_016864680.1:p.Leu96AlafsTer? | |
NM_000112.4:c.286_287del MANE Select | NP_000103.2:p.Leu96AlafsTer? |