HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94781764_94781798del , CM000672.2:g.94781764_94781798del | GRCh38 |
NC_000010.10:g.96541521_96541555del , CM000672.1:g.96541521_96541555del | GRCh37 |
NC_000010.9:g.96531511_96531545del | NCBI36 |
NG_008384.2:g.24059_24093del | |
NG_008384.3:g.24084_24118del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.643-57_643-23del MANE Select | ENSP00000360372.3:n.643-57_643-23del | |
ENST00000645461.1:n.1696-57_1696-23del | ||
ENST00000371321.7:c.643-57_643-23del | ENSP00000360372.3:n.643-57_643-23del | |
ENST00000464755.1:c.1406-57_1406-23del | ENSP00000483243.1:n.1406-57_1406-23del | |
NM_000769.2:c.643-57_643-23del | NP_000760.1:n.643-57_643-23del | |
NM_000769.4:c.643-57_643-23del MANE Select | NP_000760.1:n.643-57_643-23del |