HGVS | Genome Assembly |
---|---|
NC_000008.11:g.30786208_30786209del , CM000670.2:g.30786208_30786209del | GRCh38 |
NC_000008.10:g.30643724_30643725del , CM000670.1:g.30643724_30643725del | GRCh37 |
NC_000008.9:g.30763266_30763267del | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000221138.9:c.*27_*28del MANE Select | ENSP00000221138.4:n.*27_*28del | |
ENST00000221138.8:c.*27_*28del | ENSP00000221138.4:n.*27_*28del | |
ENST00000518532.1:n.467_468del | ||
ENST00000518564.1:c.142-219_142-218del | ENSP00000428142.1:n.142-219_142-218del | |
ENST00000522113.1:n.157_158del | ||
ENST00000523023.1:c.181+3_181+4del | ||
NM_001009552.1:c.*27_*28del | NP_001009552.1:n.*27_*28del | |
NM_001009552.2:c.*27_*28del MANE Select | NP_001009552.1:n.*27_*28del |