HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23419448_23419452del , CM000676.2:g.23419448_23419452del | GRCh38 |
NC_000014.8:g.23888657_23888661del , CM000676.1:g.23888657_23888661del | GRCh37 |
NC_000014.7:g.22958497_22958501del | NCBI36 |
NG_007884.1:g.21212_21216del , LRG_384:g.21212_21216del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.3853+33_3853+37del MANE Select | ENSP00000347507.3:n.3853+33_3853+37del | |
ENST00000355349.3:c.3853+33_3853+37del | ENSP00000347507.3:n.3853+33_3853+37del | |
NM_000257.3:c.3853+33_3853+37del | NP_000248.2:n.3853+33_3853+37del | |
XM_017021340.1:c.3853+33_3853+37del | XP_016876829.1:n.3853+33_3853+37del | |
NM_000257.4:c.3853+33_3853+37del MANE Select | NP_000248.2:n.3853+33_3853+37del |