HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215675667_215675670del , CM000663.2:g.215675667_215675670del | GRCh38 |
NC_000001.10:g.215849009_215849012del , CM000663.1:g.215849009_215849012del | GRCh37 |
NC_000001.9:g.213915632_213915635del | NCBI36 |
NG_009497.1:g.752728_752731del | |
NG_009497.2:g.752780_752783del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.12295-53_12295-50del MANE Select | ENSP00000305941.3:n.12295-53_12295-50del | |
ENST00000674083.1:c.12295-53_12295-50del | ENSP00000501296.1:n.12295-53_12295-50del | |
ENST00000307340.7:c.12295-53_12295-50del | ENSP00000305941.3:n.12295-53_12295-50del | |
NM_206933.2:c.12295-53_12295-50del | NP_996816.2:n.12295-53_12295-50del | |
NM_206933.3:c.12295-53_12295-50del | NP_996816.2:n.12295-53_12295-50del | |
NM_206933.4:c.12295-53_12295-50del MANE Select | NP_996816.3:n.12295-53_12295-50del |