HGVS | Genome Assembly |
---|---|
NC_000007.14:g.75769604_75769606del , CM000669.2:g.75769604_75769606del | GRCh38 |
NC_000007.13:g.75398922_75398924del , CM000669.1:g.75398922_75398924del | GRCh37 |
NC_000007.12:g.75236858_75236860del | NCBI36 |
NG_015989.1:g.25142_25144del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000005180.9:c.*88_*90del MANE Select | ENSP00000005180.4:n.*88_*90del | |
ENST00000005180.8:c.*88_*90del | ENSP00000005180.4:n.*88_*90del | |
ENST00000394905.2:c.*88_*90del | ENSP00000378365.2:n.*88_*90del | |
NM_006072.4:c.*88_*90del | NP_006063.1:n.*88_*90del | |
XM_017011671.1:c.*88_*90del | XP_016867160.1:n.*88_*90del | |
XM_017011672.1:c.*88_*90del | XP_016867161.1:n.*88_*90del | |
NM_001371936.1:c.*88_*90del | NP_001358865.1:n.*88_*90del | |
NM_001371938.1:c.*88_*90del MANE Select | NP_001358867.1:n.*88_*90del |