HGVS | Genome Assembly |
---|---|
NC_000001.11:g.115732826_115732829del , CM000663.2:g.115732826_115732829del | GRCh38 |
NC_000001.10:g.116275447_116275450del , CM000663.1:g.116275447_116275450del | GRCh37 |
NC_000001.9:g.116076970_116076973del | NCBI36 |
NG_008802.1:g.40982_40985del , LRG_404:g.40982_40985del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000488931.2:c.330+77_330+80del | ENSP00000518226.1:n.330+77_330+80del | |
ENST00000261448.6:c.606+77_606+80del MANE Select | ENSP00000261448.5:n.606+77_606+80del | |
ENST00000261448.5:c.606+77_606+80del | ENSP00000261448.5:n.606+77_606+80del | |
ENST00000488931.1:n.27+77_27+80del | ||
NM_001232.3:c.606+77_606+80del , LRG_404t1:c.606+77_606+80del | NP_001223.2:n.606+77_606+80del | |
NM_001232.4:c.606+77_606+80del MANE Select | NP_001223.2:n.606+77_606+80del |