HGVS | Genome Assembly |
---|---|
NC_000006.12:g.10874339_10874347del , CM000668.2:g.10874339_10874347del | GRCh38 |
NC_000006.11:g.10874572_10874580del , CM000668.1:g.10874572_10874580del | GRCh37 |
NC_000006.10:g.10982558_10982566del | NCBI36 |
NG_008970.1:g.12527_12535del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000379491.5:c.1177_1185del MANE Select | ENSP00000368805.4:p.Ala393_Gln395del | |
ENST00000379491.4:c.1177_1185del | ENSP00000368805.4:p.Ala393_Gln395del | |
ENST00000480294.1:c.101-17174_101-17166del | ENSP00000417929.1:n.101-17174_101-17166de... | |
NM_004752.3:c.1177_1185del | NP_004743.1:p.Ala393_Gln395del | |
XM_011514991.1:c.1177_1185del | XP_011513293.1:p.Ala393_Gln395del | |
NM_004752.4:c.1177_1185del MANE Select | NP_004743.1:p.Ala393_Gln395del |