HGVS | Genome Assembly |
---|---|
NC_000001.11:g.1535676_1535680del , CM000663.2:g.1535676_1535680del | GRCh38 |
NC_000001.10:g.1471056_1471060del , CM000663.1:g.1471056_1471060del | GRCh37 |
NC_000001.9:g.1460919_1460923del | NCBI36 |
NG_041807.1:g.9681_9685del | |
NG_053035.1:g.28534_28538del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378733.9:c.282_286del MANE Select | ENSP00000368007.4:p.Leu95GlyfsTer? | |
ENST00000378733.8:c.282_286del | ENSP00000368007.4:p.Leu95GlyfsTer? | |
ENST00000425828.1:c.282_286del | ENSP00000400311.1:p.Leu95GlyfsTer? | |
NM_001114748.1:c.282_286del | NP_001108220.1:p.Leu95GlyfsTer? | |
NM_001114748.2:c.282_286del MANE Select | NP_001108220.1:p.Leu95GlyfsTer? |