HGVS | Genome Assembly |
---|---|
NC_000003.12:g.13854785_13854786del , CM000665.2:g.13854785_13854786del | GRCh38 |
NC_000003.11:g.13896282_13896283del , CM000665.1:g.13896282_13896283del | GRCh37 |
NC_000003.10:g.13871283_13871284del | NCBI36 |
NG_008088.1:g.30336_30337del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000285018.5:c.316_317del MANE Select | ENSP00000285018.4:p.Phe106HisfsTer? | |
ENST00000285018.4:c.316_317del | ENSP00000285018.4:p.Phe106HisfsTer? | |
NM_004625.3:c.316_317del | NP_004616.2:p.Phe106HisfsTer? | |
XM_011534090.1:c.115_116del | XP_011532392.1:p.Phe39HisfsTer? | |
XM_011534091.1:c.115_116del | XP_011532393.1:p.Phe39HisfsTer? | |
XM_011534091.2:c.115_116del | XP_011532393.1:p.Phe39HisfsTer? | |
NM_004625.4:c.316_317del MANE Select | NP_004616.2:p.Phe106HisfsTer? |