HGVS | Genome Assembly |
---|---|
NC_000009.12:g.127854322_127854332dup , CM000671.2:g.127854322_127854332dup | GRCh38 |
NC_000009.11:g.130616601_130616611dup , CM000671.1:g.130616601_130616611dup | GRCh37 |
NC_000009.10:g.129656422_129656432dup | NCBI36 |
NG_009551.1:g.5437_5447dup , LRG_589:g.5437_5447dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373203.9:c.24_34dup MANE Select | ENSP00000362299.4:p.Leu12ArgfsTer? | |
ENST00000344849.4:c.24_34dup | ENSP00000341917.3:p.Leu12ArgfsTer? | |
ENST00000373203.8:c.24_34dup | ENSP00000362299.4:p.Leu12ArgfsTer? | |
NM_000118.3:c.24_34dup , LRG_589t1:c.24_34dup | NP_000109.1:p.Leu12ArgfsTer? | |
NM_001114753.2:c.24_34dup , LRG_589t2:c.24_34dup | NP_001108225.1:p.Leu12ArgfsTer? | |
NM_001114753.3:c.24_34dup MANE Select | NP_001108225.1:p.Leu12ArgfsTer? |