HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48966056_48966057del , CM000681.2:g.48966056_48966057del | GRCh38 |
NC_000019.9:g.49469313_49469314del , CM000681.1:g.49469313_49469314del | GRCh37 |
NC_000019.8:g.54161125_54161126del | NCBI36 |
NG_008152.1:g.5748_5749del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331825.11:c.249+140_249+141del MANE Select | ENSP00000366525.2:n.249+140_249+141del | |
ENST00000331825.10:c.249+140_249+141del | ENSP00000366525.2:n.249+140_249+141del | |
ENST00000622577.2:c.249+140_249+141del | ENSP00000484043.1:n.249+140_249+141del | |
NM_000146.3:c.249+140_249+141del | NP_000137.2:n.249+140_249+141del | |
XM_024451447.1:c.759+140_759+141del | XP_024307215.1:n.759+140_759+141del | |
NM_000146.4:c.249+140_249+141del MANE Select | NP_000137.2:n.249+140_249+141del |