HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154903915_154903916del , CM000685.2:g.154903915_154903916del | GRCh38 |
NC_000023.10:g.154132190_154132191del , CM000685.1:g.154132190_154132191del | GRCh37 |
NC_000023.9:g.153785384_153785385del | NCBI36 |
NG_011403.1:g.123811_123812del | |
NG_011403.2:g.123811_123812del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.5991_5992del MANE Select | ENSP00000353393.4:p.Tyr1998SerfsTer5 | |
ENST00000360256.8:c.5991_5992del | ENSP00000353393.4:p.Tyr1998SerfsTer5 | |
NM_000132.3:c.5991_5992del | NP_000123.1:p.Tyr1998SerfsTer5 | |
XM_011531126.1:c.5886_5887del | XP_011529428.1:p.Tyr1963SerfsTer5 | |
NM_000132.4:c.5991_5992del MANE Select | NP_000123.1:p.Tyr1998SerfsTer5 |