HGVS | Genome Assembly |
---|---|
NC_000009.12:g.136673653_136673654del , CM000671.2:g.136673653_136673654del | GRCh38 |
NC_000009.11:g.139568105_139568106del , CM000671.1:g.139568105_139568106del | GRCh37 |
NC_000009.10:g.138687926_138687927del | NCBI36 |
NG_008090.1:g.18807_18808del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371696.7:c.*99_*100del MANE Select | ENSP00000360761.2:n.*99_*100del | |
ENST00000371694.7:c.*99_*100del | ENSP00000360759.3:n.*99_*100del | |
ENST00000371696.6:c.*99_*100del | ENSP00000360761.2:n.*99_*100del | |
ENST00000538402.1:c.*99_*100del | ENSP00000438919.1:n.*99_*100del | |
NM_001012727.1:c.*99_*100del | NP_001012745.1:n.*99_*100del | |
NM_006412.3:c.*99_*100del | NP_006403.2:n.*99_*100del | |
NM_006412.4:c.*99_*100del MANE Select | NP_006403.2:n.*99_*100del | |
NM_001012727.2:c.*99_*100del | NP_001012745.1:n.*99_*100del |