HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149977891_149977895dup , CM000667.2:g.149977891_149977895dup | GRCh38 |
NC_000005.9:g.149357454_149357458dup , CM000667.1:g.149357454_149357458dup | GRCh37 |
NC_000005.8:g.149337647_149337651dup | NCBI36 |
NG_007147.2:g.19009_19013dup , LRG_684:g.19009_19013dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000690410.1:n.471_475dup | ||
ENST00000286298.5:c.239_243dup MANE Select | ENSP00000286298.4:p.Pro82AlafsTer9 | |
ENST00000286298.4:c.239_243dup | ENSP00000286298.4:p.Pro82AlafsTer9 | |
NM_000112.3:c.239_243dup , LRG_684t1:c.239_243dup | NP_000103.2:p.Pro82AlafsTer9 | |
XM_017009191.2:c.239_243dup | XP_016864680.1:p.Pro82AlafsTer9 | |
NM_000112.4:c.239_243dup MANE Select | NP_000103.2:p.Pro82AlafsTer9 |