HGVS | Genome Assembly |
---|---|
NC_000008.11:g.117837149_117837151del , CM000670.2:g.117837149_117837151del | GRCh38 |
NC_000008.10:g.118849388_118849390del , CM000670.1:g.118849388_118849390del | GRCh37 |
NC_000008.9:g.118918569_118918571del | NCBI36 |
NG_007455.2:g.279671_279673del , LRG_493:g.279671_279673del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000684189.1:n.482_484del | ||
ENST00000378204.7:c.1015_1017del MANE Select | ENSP00000367446.3:p.Gly339del | |
ENST00000436216.2:c.383_385del | ||
ENST00000378204.6:c.1015_1017del | ENSP00000367446.2:p.Gly339del | |
ENST00000436216.1:c.383_385del | ||
ENST00000437196.1:c.74-1598_74-1596del | ENSP00000407299.1:n.74-1598_74-1596del | |
NM_000127.2:c.1015_1017del , LRG_493t1:c.1015_1017del | NP_000118.2:p.Gly339del | |
NM_000127.3:c.1015_1017del MANE Select | NP_000118.2:p.Gly339del |