HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240868890_240868892delinsACC , CM000664.2:g.240868890_240868892delinsACC | GRCh38 |
NC_000002.11:g.241808307_241808309delinsACC , CM000664.1:g.241808307_241808309delinsACC | GRCh37 |
NC_000002.10:g.241456980_241456982delinsACC | NCBI36 |
NG_008005.1:g.5146_5148delinsACC |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307503.4:c.25_27delinsACC MANE Select | ENSP00000302620.3:p.Thr9= | |
ENST00000307503.3:c.25_27delinsACC | ENSP00000302620.3:p.Thr9= | |
ENST00000472436.1:n.45_47delinsACC | ||
NM_000030.2:c.25_27delinsACC | NP_000021.1:p.Thr9= | |
XR_924060.1:n.405+1341_405+1343delinsGGT | ||
NM_000030.3:c.25_27delinsACC MANE Select | NP_000021.1:p.Thr9= |