HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24174766_24174768del , CM000668.2:g.24174766_24174768del | GRCh38 |
NC_000006.11:g.24174994_24174996del , CM000668.1:g.24174994_24174996del | GRCh37 |
NC_000006.10:g.24282973_24282975del | NCBI36 |
NG_012829.1:g.188288_188290del | |
NG_012829.2:g.213528_213530del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378454.8:c.1396_1398del MANE Select | ENSP00000367715.3:p.Asn466del | |
ENST00000378450.6:c.655_657del | ENSP00000367711.3:p.Asn219del | |
ENST00000378454.7:c.1396_1398del | ENSP00000367715.3:p.Asn466del | |
NM_001195610.1:c.1396_1398del | NP_001182539.1:p.Asn466del | |
NM_016356.4:c.1396_1398del | NP_057440.2:p.Asn466del | |
NM_016356.5:c.1396_1398del MANE Select | NP_057440.2:p.Asn466del | |
NM_001195610.2:c.1396_1398del | NP_001182539.1:p.Asn466del |