HGVS | Genome Assembly |
---|---|
NC_000008.11:g.37965971del , CM000670.2:g.37965971del | GRCh38 |
NC_000008.10:g.37823489del , CM000670.1:g.37823489del | GRCh37 |
NC_000008.9:g.37942646del | NCBI36 |
NG_011936.1:g.5696del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000345060.5:c.499del MANE Select | ENSP00000343782.3:p.Ala167ArgfsTer8 | |
ENST00000520341.2:n.627del | ||
ENST00000345060.4:c.499del | ENSP00000343782.3:p.Ala167ArgfsTer8 | |
ENST00000614635.1:c.499del | ENSP00000480325.1:p.Ala167ArgfsTer8 | |
NM_000025.2:c.499del | NP_000016.1:p.Ala167ArgfsTer8 | |
NM_000025.3:c.499del MANE Select | NP_000016.1:p.Ala167ArgfsTer8 |