HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23429383_23429385del , CM000676.2:g.23429383_23429385del | GRCh38 |
NC_000014.8:g.23898592_23898594del , CM000676.1:g.23898592_23898594del | GRCh37 |
NC_000014.7:g.22968432_22968434del | NCBI36 |
NG_007884.1:g.11277_11279del , LRG_384:g.11277_11279del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.1139-38_1139-36del MANE Select | ENSP00000347507.3:n.1139-38_1139-36del | |
ENST00000355349.3:c.1139-38_1139-36del | ENSP00000347507.3:n.1139-38_1139-36del | |
NM_000257.3:c.1139-38_1139-36del | NP_000248.2:n.1139-38_1139-36del | |
XR_245686.3:n.1245-38_1245-36del | ||
XM_017021340.1:c.1139-38_1139-36del | XP_016876829.1:n.1139-38_1139-36del | |
NM_000257.4:c.1139-38_1139-36del MANE Select | NP_000248.2:n.1139-38_1139-36del |