HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24278014_24278026del , CM000668.2:g.24278014_24278026del | GRCh38 |
NC_000006.11:g.24278242_24278254del , CM000668.1:g.24278242_24278254del | GRCh37 |
NC_000006.10:g.24386221_24386233del | NCBI36 |
NG_012829.1:g.85029_85041del | |
NG_012829.2:g.110269_110281del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378454.8:c.922+25_922+37del MANE Select | ENSP00000367715.3:n.922+25_922+37del | |
ENST00000378454.7:c.922+25_922+37del | ENSP00000367715.3:n.922+25_922+37del | |
NM_001195610.1:c.922+25_922+37del | NP_001182539.1:n.922+25_922+37del | |
NM_016356.4:c.922+25_922+37del | NP_057440.2:n.922+25_922+37del | |
NM_016356.5:c.922+25_922+37del MANE Select | NP_057440.2:n.922+25_922+37del | |
NM_001195610.2:c.922+25_922+37del | NP_001182539.1:n.922+25_922+37del |