HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23431348_23431351dup , CM000676.2:g.23431348_23431351dup | GRCh38 |
NC_000014.8:g.23900557_23900560dup , CM000676.1:g.23900557_23900560dup | GRCh37 |
NC_000014.7:g.22970397_22970400dup | NCBI36 |
NG_007884.1:g.9320_9323dup , LRG_384:g.9320_9323dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.796+76_796+79dup MANE Select | ENSP00000347507.3:n.796+76_796+79dup | |
ENST00000355349.3:c.796+76_796+79dup | ENSP00000347507.3:n.796+76_796+79dup | |
NM_000257.3:c.796+76_796+79dup | NP_000248.2:n.796+76_796+79dup | |
XR_245686.3:n.902+76_902+79dup | ||
XM_017021340.1:c.796+76_796+79dup | XP_016876829.1:n.796+76_796+79dup | |
NM_000257.4:c.796+76_796+79dup MANE Select | NP_000248.2:n.796+76_796+79dup |