HGVS | Genome Assembly |
---|---|
NC_000006.12:g.143485212_143485215del , CM000668.2:g.143485212_143485215del | GRCh38 |
NC_000006.11:g.143806349_143806352del , CM000668.1:g.143806349_143806352del | GRCh37 |
NC_000006.10:g.143848042_143848045del | NCBI36 |
NG_008459.1:g.39432_39435del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367591.5:c.1002_1005del MANE Select | ENSP00000356563.4:p.His334GlnfsTer15 | |
ENST00000367591.4:c.1002_1005del | ENSP00000356563.4:p.His334GlnfsTer15 | |
ENST00000585848.1:n.141_144del | ||
NM_003630.2:c.1002_1005del | NP_003621.1:p.His334GlnfsTer15 | |
NM_003630.3:c.1002_1005del MANE Select | NP_003621.1:p.His334GlnfsTer15 |