HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19960652_19960653del , CM000670.2:g.19960652_19960653del | GRCh38 |
NC_000008.10:g.19818163_19818164del , CM000670.1:g.19818163_19818164del | GRCh37 |
NC_000008.9:g.19862443_19862444del | NCBI36 |
NG_008855.1:g.26582_26583del | |
NG_008855.2:g.63936_63937del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.1140-249_1140-248del MANE Select | ENSP00000497642.1:n.1140-249_1140-248del | |
ENST00000650478.1:c.80-249_80-248del | ENSP00000497560.1:n.80-249_80-248del | |
ENST00000311322.8:c.1140-249_1140-248del | ENSP00000309757.6:n.1140-249_1140-248del | |
NM_000237.2:c.1140-249_1140-248del | NP_000228.1:n.1140-249_1140-248del | |
NM_000237.3:c.1140-249_1140-248del MANE Select | NP_000228.1:n.1140-249_1140-248del |