HGVS | Genome Assembly |
---|---|
NC_000021.9:g.45990501_45990518del , CM000683.2:g.45990501_45990518del | GRCh38 |
NC_000021.8:g.47410415_47410432del , CM000683.1:g.47410415_47410432del | GRCh37 |
NC_000021.7:g.46234843_46234860del | NCBI36 |
NG_008674.1:g.13753_13770del , LRG_475:g.13753_13770del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361866.8:c.1002+79_1002+96del MANE Select | ENSP00000355180.3:n.1002+79_1002+96del | |
ENST00000361866.7:c.1002+79_1002+96del | ENSP00000355180.3:n.1002+79_1002+96del | |
ENST00000612273.1:c.1002+79_1002+96del | ENSP00000483630.1:n.1002+79_1002+96del | |
NM_001848.2:c.1002+79_1002+96del , LRG_475t1:c.1002+79_1002+96del | NP_001839.2:n.1002+79_1002+96del | |
NM_001848.3:c.1002+79_1002+96del MANE Select | NP_001839.2:n.1002+79_1002+96del |