HGVS | Genome Assembly |
---|---|
NC_000008.11:g.117835507dup , CM000670.2:g.117835507dup | GRCh38 |
NC_000008.10:g.118847746dup , CM000670.1:g.118847746dup | GRCh37 |
NC_000008.9:g.118916927dup | NCBI36 |
NG_007455.2:g.281313dup , LRG_493:g.281313dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684189.1:n.568dup | ||
ENST00000378204.7:c.1101dup MANE Select | ENSP00000367446.3:p.Phe368IlefsTer3 | |
ENST00000436216.2:c.469dup | ||
ENST00000378204.6:c.1101dup | ENSP00000367446.2:p.Phe368IlefsTer3 | |
ENST00000436216.1:c.469dup | ||
ENST00000437196.1:c.118dup | ENSP00000407299.1:p.Ile40AsnfsTer5 | |
NM_000127.2:c.1101dup , LRG_493t1:c.1101dup | NP_000118.2:p.Phe368IlefsTer3 | |
NM_000127.3:c.1101dup MANE Select | NP_000118.2:p.Phe368IlefsTer3 |