HGVS | Genome Assembly |
---|---|
NC_000009.12:g.127854363_127854364dup , CM000671.2:g.127854363_127854364dup | GRCh38 |
NC_000009.11:g.130616642_130616643dup , CM000671.1:g.130616642_130616643dup | GRCh37 |
NC_000009.10:g.129656463_129656464dup | NCBI36 |
NG_009551.1:g.5406_5407dup , LRG_589:g.5406_5407dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000373203.9:c.-8_-7dup MANE Select | ENSP00000362299.4:n.-8_-7dup | |
ENST00000344849.4:c.-8_-7dup | ENSP00000341917.3:n.-8_-7dup | |
ENST00000373203.8:c.-8_-7dup | ENSP00000362299.4:n.-8_-7dup | |
NM_000118.3:c.-8_-7dup , LRG_589t1:c.-8_-7dup | NP_000109.1:n.-8_-7dup | |
NM_001114753.2:c.-8_-7dup , LRG_589t2:c.-8_-7dup | NP_001108225.1:n.-8_-7dup | |
NM_001114753.3:c.-8_-7dup MANE Select | NP_001108225.1:n.-8_-7dup |