HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23431305_23431306del , CM000676.2:g.23431305_23431306del | GRCh38 |
NC_000014.8:g.23900514_23900515del , CM000676.1:g.23900514_23900515del | GRCh37 |
NC_000014.7:g.22970354_22970355del | NCBI36 |
NG_007884.1:g.9359_9360del , LRG_384:g.9359_9360del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000355349.4:c.796+115_796+116del MANE Select | ENSP00000347507.3:n.796+115_796+116del | |
ENST00000355349.3:c.796+115_796+116del | ENSP00000347507.3:n.796+115_796+116del | |
NM_000257.3:c.796+115_796+116del | NP_000248.2:n.796+115_796+116del | |
XR_245686.3:n.902+115_902+116del | ||
XM_017021340.1:c.796+115_796+116del | XP_016876829.1:n.796+115_796+116del | |
NM_000257.4:c.796+115_796+116del MANE Select | NP_000248.2:n.796+115_796+116del |