HGVS | Genome Assembly |
---|---|
NC_000023.11:g.155022467_155022481del , CM000685.2:g.155022467_155022481del | GRCh38 |
NC_000023.10:g.154250742_154250756del , CM000685.1:g.154250742_154250756del | GRCh37 |
NC_000023.9:g.153903936_153903950del | NCBI36 |
NG_011403.1:g.5243_5257del | |
NG_011403.2:g.5243_5257del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.72_86del MANE Select | ENSP00000353393.4:p.Tyr24Ter | |
ENST00000647125.1:c.72_86del | ENSP00000496062.1:p.Tyr24Ter | |
ENST00000360256.8:c.72_86del | ENSP00000353393.4:p.Tyr24Ter | |
ENST00000423959.5:c.38+4299_38+4313del | ENSP00000409446.1:n.38+4299_38+4313del | |
ENST00000453950.1:c.54_68del | ENSP00000389153.1:p.Tyr18Ter | |
NM_000132.3:c.72_86del | NP_000123.1:p.Tyr24Ter | |
XM_011531126.1:c.38+4299_38+4313del | XP_011529428.1:n.38+4299_38+4313del | |
NM_000132.4:c.72_86del MANE Select | NP_000123.1:p.Tyr24Ter |