HGVS | Genome Assembly |
---|---|
NC_000008.11:g.38145143_38145144del , CM000670.2:g.38145143_38145144del | GRCh38 |
NC_000008.10:g.38002661_38002662del , CM000670.1:g.38002661_38002662del | GRCh37 |
NC_000008.9:g.38121818_38121819del | NCBI36 |
NG_011827.1:g.10940_10941del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000276449.9:c.744+79_744+80del MANE Select | ENSP00000276449.3:n.744+79_744+80del | |
ENST00000276449.8:c.744+79_744+80del | ENSP00000276449.3:n.744+79_744+80del | |
ENST00000520114.1:n.1957_1958del | ||
ENST00000522050.1:c.587-757_587-756del | ||
NM_000349.2:c.744+79_744+80del | NP_000340.2:n.744+79_744+80del | |
XM_006716392.1:c.651-757_651-756del | XP_006716455.1:n.651-757_651-756del | |
NM_000349.3:c.744+79_744+80del MANE Select | NP_000340.2:n.744+79_744+80del |