HGVS | Genome Assembly |
---|---|
NC_000019.10:g.35848211_35848215del , CM000681.2:g.35848211_35848215del | GRCh38 |
NC_000019.9:g.36339113_36339117del , CM000681.1:g.36339113_36339117del | GRCh37 |
NC_000019.8:g.41030953_41030957del | NCBI36 |
NG_013356.2:g.26073_26077del , LRG_693:g.26073_26077del | |
NG_051206.1:g.1577_1581del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378910.10:c.1315+38_1315+42del MANE Select | ENSP00000368190.4:n.1315+38_1315+42del | |
ENST00000353632.6:c.1315+38_1315+42del | ENSP00000343634.5:n.1315+38_1315+42del | |
ENST00000378910.9:c.1315+38_1315+42del | ENSP00000368190.4:n.1315+38_1315+42del | |
ENST00000592132.1:n.322+38_322+42del | ||
NM_004646.3:c.1315+38_1315+42del , LRG_693t1:c.1315+38_1315+42del | NP_004637.1:n.1315+38_1315+42del | |
NM_004646.4:c.1315+38_1315+42del MANE Select | NP_004637.1:n.1315+38_1315+42del |