HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149981130_149981134dup , CM000667.2:g.149981130_149981134dup | GRCh38 |
NC_000005.9:g.149360693_149360697dup , CM000667.1:g.149360693_149360697dup | GRCh37 |
NC_000005.8:g.149340886_149340890dup | NCBI36 |
NG_007147.2:g.22248_22252dup , LRG_684:g.22248_22252dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286298.5:c.1537_1541dup MANE Select | ENSP00000286298.4:p.Ile514MetfsTer14 | |
ENST00000286298.4:c.1537_1541dup | ENSP00000286298.4:p.Ile514MetfsTer14 | |
ENST00000503336.1:c.372+2779_372+2783dup | ENSP00000426053.1:n.372+2779_372+2783dup | |
NM_000112.3:c.1537_1541dup , LRG_684t1:c.1537_1541dup | NP_000103.2:p.Ile514MetfsTer14 | |
XM_017009191.2:c.1537_1541dup | XP_016864680.1:p.Ile514MetfsTer14 | |
NM_000112.4:c.1537_1541dup MANE Select | NP_000103.2:p.Ile514MetfsTer14 |