HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240877370_240877383del , CM000664.2:g.240877370_240877383del | GRCh38 |
NC_000002.11:g.241816787_241816800del , CM000664.1:g.241816787_241816800del | GRCh37 |
NC_000002.10:g.241465460_241465473del | NCBI36 |
NG_008005.1:g.13626_13639del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.4:c.847-167_847-154del MANE Select | ENSP00000302620.3:n.847-167_847-154del | |
ENST00000307503.3:c.847-167_847-154del | ENSP00000302620.3:n.847-167_847-154del | |
ENST00000470255.1:n.458_471del | ||
NM_000030.2:c.847-167_847-154del | NP_000021.1:n.847-167_847-154del | |
NM_000030.3:c.847-167_847-154del MANE Select | NP_000021.1:n.847-167_847-154del |