HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240869066_240869067del , CM000664.2:g.240869066_240869067del | GRCh38 |
NC_000002.11:g.241808483_241808484del , CM000664.1:g.241808483_241808484del | GRCh37 |
NC_000002.10:g.241457156_241457157del | NCBI36 |
NG_008005.1:g.5322_5323del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307503.4:c.165+36_165+37del MANE Select | ENSP00000302620.3:n.165+36_165+37del | |
ENST00000307503.3:c.165+36_165+37del | ENSP00000302620.3:n.165+36_165+37del | |
ENST00000472436.1:n.185+36_185+37del | ||
NM_000030.2:c.165+36_165+37del | NP_000021.1:n.165+36_165+37del | |
XR_924060.1:n.405+1167_405+1168del | ||
NM_000030.3:c.165+36_165+37del MANE Select | NP_000021.1:n.165+36_165+37del |